{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3137684", "communityStandardTitle": [ "NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440081[alleleid]", "alleleId": 440081, "preferredName": "NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446667", "RCV": [ "RCV000515960" ], "variationId": 446667 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-170459007-G-A", "id": "4-170459007-G-A", "variant": "4:170459007 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.170459007G>A?assembly=hg19", "id": "chr4:g.170459007G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.169537856G>A?assembly=hg38", "id": "chr4:g.169537856G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758677637", "rs": 758677637 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-170459007-G-A?dataset=gnomad_r2_1", "id": "4-170459007-G-A", "variant": "4:170459007 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-169537856-G-A?dataset=gnomad_r4", "id": "4-169537856-G-A", "variant": "4:169537856 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 169537856, "referenceAllele": "G", "start": 169537855 } ], "hgvs": [ "NC_000004.12:g.169537856G>A", "CM000666.2:g.169537856G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 170459007, "referenceAllele": "G", "start": 170459006 } ], "hgvs": [ "NC_000004.11:g.170459007G>A", "CM000666.1:g.170459007G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 170695582, "referenceAllele": "G", "start": 170695581 } ], "hgvs": [ "NC_000004.10:g.170695582G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 79772, "referenceAllele": "C", "start": 79771 } ], "hgvs": [ "NG_027982.1:g.79772C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000685111.1:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000508844.1:p.Arg512Ter", "hgvsWellDefined": "ENSP00000508844.1:p.Arg512_Glu1230delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829888" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000685677.1:n.916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830199" }, { "coordinates": [ { "allele": "T", "end": 2075, "referenceAllele": "C", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000686697.1:c.1492C>T" ], "proteinEffect": { "hgvs": "ENSP00000508689.1:p.Arg498Ter", "hgvsWellDefined": "ENSP00000508689.1:p.Arg498_Glu1125delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830702" }, { "coordinates": [ { "allele": "T", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687054.1:n.2196C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830882" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687219.1:c.*1205C>T" ], "proteinEffect": { "hgvs": "ENSP00000509736.1:n.*1205C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830980" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687528.1:c.1486C>T" ], "proteinEffect": { "hgvs": "ENSP00000510228.1:p.Arg496Ter", "hgvsWellDefined": "ENSP00000510228.1:p.Arg496_Cys671delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831131" }, { "coordinates": [ { "allele": "T", "end": 2215, "referenceAllele": "C", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687643.1:c.1645C>T" ], "proteinEffect": { "hgvs": "ENSP00000509309.1:p.Arg549Ter", "hgvsWellDefined": "ENSP00000509309.1:p.Arg549_Glu1267delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831193" }, { "coordinates": [ { "allele": "T", "end": 613, "endIntronDirection": "-", "endIntronOffset": 29524, "referenceAllele": "C", "start": 613, "startIntronDirection": "-", "startIntronOffset": 29525 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000688934.1:c.-132-29525C>T" ], "proteinEffect": { "hgvs": "ENSP00000510760.1:n.-132-29525C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS831901" }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000692450.1:c.*1283C>T" ], "proteinEffect": { "hgvs": "ENSP00000510283.1:n.*1283C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833724" }, { "coordinates": [ { "allele": "T", "end": 2135, "referenceAllele": "C", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000693085.1:c.*1445C>T" ], "proteinEffect": { "hgvs": "ENSP00000508746.1:n.*1445C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834054" }, { "coordinates": [ { "allele": "T", "end": 2241, "referenceAllele": "C", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000693604.1:c.*636C>T" ], "proteinEffect": { "hgvs": "ENSP00000509917.1:n.*636C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834329" }, { "coordinates": [ { "allele": "T", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.6:c.1618C>T" ], "proteinEffect": { "hgvs": "ENSP00000424757.2:p.Arg540Ter", "hgvsWellDefined": "ENSP00000424757.2:p.Arg540_Glu1286delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758106", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1618C>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1618C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Arg540Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Arg540Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2259, "referenceAllele": "C", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000439128.6:c.1618C>T" ], "proteinEffect": { "hgvs": "ENSP00000408020.2:p.Arg540Ter", "hgvsWellDefined": "ENSP00000408020.2:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295273" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.5:c.1618C>T" ], "proteinEffect": { "hgvs": "ENSP00000424757.1:p.Arg540Ter", "hgvsWellDefined": "ENSP00000424757.1:p.Arg540_Glu1286delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.1486C>T" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Arg496Ter", "hgvsWellDefined": "ENSP00000427653.1:p.Arg496_Glu1214delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "T", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.1486C>T" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Arg496Ter", "hgvsWellDefined": "ENSP00000423332.1:p.Arg496_Glu1242delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1411C>T" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Arg471Ter", "hgvsWellDefined": "ENSP00000424938.1:p.Arg471_Glu1189delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA658681630", "coordinates": [ { "allele": "T", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg540Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg540_Glu1286delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242211", "coordinates": [ { "allele": "T", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg496_Glu1242delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242619", "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg471Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg471_Glu1189delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243039", "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "C", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg496_Glu1214delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA916004349", "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg540Ter", "hgvsWellDefined": "NP_036356.1:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.1618C>T" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Arg540Ter", "hgvsWellDefined": "XP_006714291.1:p.Arg540_Glu1227delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.1618C>T" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Arg540Ter", "hgvsWellDefined": "XP_011530305.1:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "T", "end": 2066, "referenceAllele": "C", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.1486C>T" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Arg496Ter", "hgvsWellDefined": "XP_011530306.1:p.Arg496_Glu1214delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099033" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.1:c.1618C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg540Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg540_Cys715delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099034" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.2:c.1618C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg540Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg540_Cys715delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550648" }, { "coordinates": [ { "allele": "T", "end": 2100, "referenceAllele": "C", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008249.1:c.997C>T" ], "proteinEffect": { "hgvs": "XP_016863738.1:p.Arg333Ter", "hgvsWellDefined": "XP_016863738.1:p.Arg333_Glu1079delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562791" }, { "coordinates": [ { "allele": "T", "end": 2100, "referenceAllele": "C", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008251.1:c.997C>T" ], "proteinEffect": { "hgvs": "XP_016863740.1:p.Arg333Ter", "hgvsWellDefined": "XP_016863740.1:p.Arg333_Glu1051delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562792" }, { "coordinates": [ { "allele": "T", "end": 1990, "referenceAllele": "C", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008252.2:c.997C>T" ], "proteinEffect": { "hgvs": "XP_016863741.1:p.Arg333Ter", "hgvsWellDefined": "XP_016863741.1:p.Arg333_Glu1051delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562793" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008253.1:c.466C>T" ], "proteinEffect": { "hgvs": "XP_016863742.1:p.Arg156Ter", "hgvsWellDefined": "XP_016863742.1:p.Arg156_Glu902delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562794" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008254.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016863743.1:p.Arg88Ter", "hgvsWellDefined": "XP_016863743.1:p.Arg88_Glu834delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562795" }, { "coordinates": [ { "allele": "T", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_024454065.1:c.997C>T" ], "proteinEffect": { "hgvs": "XP_024309833.1:p.Arg333Ter", "hgvsWellDefined": "XP_024309833.1:p.Arg333_Glu1079delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587435" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741233.1:n.2198C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591266" }, { "coordinates": [ { "allele": "T", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741234.2:n.2011C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591267" }, { "@id": "http://reg.genome.network/allele/PA658681630", "coordinates": [ { "allele": "T", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.3:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg540Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg540_Glu1286delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1618C>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1618C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Arg540Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Arg540Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242211", "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg496_Glu1242delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242619", "coordinates": [ { "allele": "T", "end": 1945, "referenceAllele": "C", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg471Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg471_Glu1189delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243039", "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg496_Glu1214delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2828511181", "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Arg540Ter", "hgvsWellDefined": "NP_001361347.1:p.Arg540_Glu1286delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511484", "coordinates": [ { "allele": "T", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Arg540Ter", "hgvsWellDefined": "NP_001361348.1:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828511917", "coordinates": [ { "allele": "T", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.1567C>T" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Arg523Ter", "hgvsWellDefined": "NP_001361349.1:p.Arg523_Glu1241delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "@id": "http://reg.genome.network/allele/PA2828512342", "coordinates": [ { "allele": "T", "end": 2026, "referenceAllele": "C", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1492C>T" ], "proteinEffect": { "hgvs": "NP_001361350.1:p.Arg498Ter", "hgvsWellDefined": "NP_001361350.1:p.Arg498_Glu1125delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA916004349", "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg540Ter", "hgvsWellDefined": "NP_036356.1:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "T", "end": 2164, "referenceAllele": "C", "start": 2163 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2164C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242211", "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg496_Glu1242delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242619", "coordinates": [ { "allele": "T", "end": 1945, "referenceAllele": "C", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1411C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg471Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg471_Glu1189delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243039", "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg496Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg496_Glu1214delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA916004349", "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg540Ter", "hgvsWellDefined": "NP_036356.1:p.Arg540_Glu1258delinsLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }