{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390931232", "communityStandardTitle": [ "NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=842068[alleleid]", "alleleId": 842068, "preferredName": "NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/861842", "RCV": [ "RCV003103923" ], "variationId": 861842 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.97299964T>A?assembly=hg19", "id": "chr14:g.97299964T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.96833627T>A?assembly=hg38", "id": "chr14:g.96833627T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1887100431", "rs": 1887100431 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 96833627, "referenceAllele": "T", "start": 96833626 } ], "hgvs": [ "NC_000014.9:g.96833627T>A", "CM000676.2:g.96833627T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 97299964, "referenceAllele": "T", "start": 97299963 } ], "hgvs": [ "NC_000014.8:g.97299964T>A", "CM000676.1:g.97299964T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 96369717, "referenceAllele": "T", "start": 96369716 } ], "hgvs": [ "NC_000014.7:g.96369717T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 41281, "referenceAllele": "T", "start": 41280 } ], "hgvs": [ "NG_016293.1:g.41281T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003083" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "T", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.8:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000216639.3:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740327", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.156T>A" }, "RefSeq": { "hgvs": "NM_003384.3:c.156T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Tyr52Ter" }, "RefSeq": { "hgvs": "NP_003375.1:p.Tyr52Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "T", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000553683.2:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000451412.2:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000451412.2:p.Tyr52_Lys420delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760067" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "T", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000555351.2:n.278T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760123" }, { "coordinates": [ { "allele": "A", "end": 70, "endIntronDirection": "-", "endIntronOffset": 12467, "referenceAllele": "T", "start": 70, "startIntronDirection": "-", "startIntronOffset": 12468 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557222.6:c.-168-12468T>A" ], "proteinEffect": { "hgvs": "ENSP00000450820.2:n.-168-12468T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760191" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000557352.2:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000451682.2:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000451682.2:p.Tyr52_Asn394delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysValAsnPheValIleLysLeuPhePheGlyLeuLeuValPheIleIleAlaIleAsnThrLysArgLysTyrSerSerSerSerMetLysAsnAsnAsnArgLeuHisGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760201" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679365.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505882.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505882.1:p.Tyr52_Leu442delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspTyrGlyIleSerSerGlyLeuThrAspThrGlnArgProGlyAlaProGlyHisHisIleProAspMetSerThrCysAlaLysCysIleHisSerSerIleLeuAspGluPheThrGluHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778998" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "T", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679452.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505395.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505395.1:p.Tyr52_Leu99delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleThrGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779083" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679462.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506011.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506011.1:p.Tyr52_Leu437delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysIleSerLeuSerLeuSerLeuIleLeuTyrValArgSerGluArgLysLysLeuLysLysAlaArgAsnLeuValLeuLysIleArgAsnGlyGlnThrHisArgGlnArgArgProTyrArgProValGlnGluProGluArgGluSerArgSerAsnSerAspAlaValAsnGlnIleSerPheSerLeuPheSerPheAspPhePheLeuLeuPheTyrLeuAsnCysPheIlePheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779093" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679506.1:n.161T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779137" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "T", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679533.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505873.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505873.1:p.Tyr52_Val72delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779162" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679650.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505156.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505156.1:p.Tyr52_Pro101delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnLysMetAspSerTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779278" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679727.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505844.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505844.1:p.Tyr52_Lys394delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779353" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679736.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506517.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506517.1:p.Tyr52_Val244delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAspThrGluLysIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779361" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679758.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505539.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505539.1:p.Tyr52_Phe362delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysGluThrArgThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779383" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "T", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679770.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505214.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505214.1:p.Tyr52_Leu448delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrLeuArgSerProLysGluGlnTyrIleGluAlaCysLeuSerGlnArgLeuAlaAlaAlaAlaMetThrValGlnGluProGluArgGluSerArgSerAsnSerAspAlaValAsnGlnIleSerPheSerLeuPheSerPheAspPhePheLeuLeuPheTyrLeuAsnCysPheIlePheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779395" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679816.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506525.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506525.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779440" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679903.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506022.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506022.1:p.Tyr52_Lys393delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779525" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "T", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679918.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505439.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505439.1:p.Tyr52_Lys420delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779540" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "T", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679941.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506520.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506520.1:p.Tyr52_Glu375delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysValGlyLeuMetArgAspValGluSerSerSerArgGlyCysLeuValIleMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779563" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "T", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000679977.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000504897.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000504897.1:p.Tyr52_Ala249delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyProHisGlnAspValValIleTrpLysTyrLeuValIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779599" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680007.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505683.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505683.1:p.Tyr52_Lys420delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779629" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "T", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680084.1:n.262T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779705" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680222.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506647.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506647.1:p.Tyr52_Ser81delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValPheArgAsnGlyPheValProValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779842" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680335.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505806.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505806.1:p.Tyr52_Glu375delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysValGlyLeuMetArgAspValGluSerSerSerArgGlyCysLeuValIleMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779953" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680339.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506470.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506470.1:p.Tyr52_Pro101delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnLysMetAspSerTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779957" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "T", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680348.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000504922.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000504922.1:p.Tyr52_Ala170delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleValSerGlyTyrSerGlyIleTyrSerArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779966" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680384.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506237.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506237.1:p.Tyr52_Val72delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780002" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680387.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000504908.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000504908.1:p.Tyr52_Leu444delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspTyrGlyIleSerSerGlyLeuThrAspThrGlnArgProGlyAlaProGlyHisHisIleProAspMetSerThrCysAlaLysCysIleHisSerSerIleLeuAspGluPheThrGluHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780005" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "T", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680509.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505209.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505209.1:p.Tyr52_Lys356del" }, "referenceSequence": "http://reg.genome.network/refseq/RS780125" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680526.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505595.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505595.1:p.Tyr52_Glu83delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValLeuGlnValTyrAspAsnGlySerLeuTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780142" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "T", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680538.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505611.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505611.1:p.Tyr52_Lys366delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780154" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680683.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506334.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506334.1:p.Tyr52_Lys403delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrLeuSerLeuIlePheLeuGlnGlySerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780298" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680724.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000504891.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000504891.1:p.Tyr52_Asp395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrHisLeuGluProGluThrLeuAsnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780339" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "T", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680756.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506648.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506648.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780371" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680849.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505602.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505602.1:p.Tyr52_Lys395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780463" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680851.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505159.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505159.1:p.Tyr52_Leu395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysValGlnGluProGluArgGluSerArgSerAsnSerAspAlaValAsnGlnIleSerPheSerLeuPheSerPheAspPhePheLeuLeuPheTyrLeuAsnCysPheIlePheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780465" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "T", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680922.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506480.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506480.1:p.Tyr52_Val244delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAspThrGluLysIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780536" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "T", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000680993.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505511.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505511.1:p.Tyr52_Ala172delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleValSerGlyTyrSerGlyIleTyrSerArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780607" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681077.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505642.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505642.1:p.Tyr52_Asp161delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysArgIleLeuSerIleLeuLysProLeuThrGlyLysAspLysValIleThrAlaIleHisValGluLysAspGlyMetProGluProAsnTrpCysSerValArgLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780690" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "T", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681101.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506564.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506564.1:p.Tyr52_Thr413delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspGlnAsnCysLeuLeuAsnAlaIleMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780713" }, { "coordinates": [ { "allele": "A", "end": 223, "referenceAllele": "T", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681176.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505454.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505454.1:p.Tyr52_Lys314del" }, "referenceSequence": "http://reg.genome.network/refseq/RS780788" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "T", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681195.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000504933.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000504933.1:p.Tyr52_Lys395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780806" }, { "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681249.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506013.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506013.1:p.Tyr52_Lys395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780860" }, { "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681344.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506151.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506151.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780954" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "T", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681355.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506214.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506214.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780965" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "T", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681363.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505564.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505564.1:p.Tyr52_Thr372delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysSerTrpLeuAlaLeuIleArgProValHisArgGlnGluArgCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780973" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "T", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681419.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505512.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505512.1:p.Tyr52_Ala393delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgLysLeuAsnSerPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781026" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681474.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505569.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505569.1:p.Tyr52_Asn302delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGluAlaLysGluArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781081" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "T", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681493.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506429.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506429.1:p.Tyr52_Lys394delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781099" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "T", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681524.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505783.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505783.1:p.Tyr52_Val244delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAspThrGluLysIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781130" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "T", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681538.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506662.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506662.1:p.Tyr52_Leu321delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGluSerProCysGlnLeuHisThrHisSerProThrSerLysPheAlaGlyThrLeuGlyLeuAsnLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781144" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "T", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681598.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506128.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506128.1:p.Tyr52_Glu83delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValLeuGlnValTyrAspAsnGlySerLeuTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781204" }, { "coordinates": [ { "allele": "A", "end": 181, "referenceAllele": "T", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681695.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506225.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506225.1:p.Tyr52_Glu83delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValLeuGlnValTyrAspAsnGlySerLeuTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781299" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "T", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681778.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000506049.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000506049.1:p.Tyr52_Glu375delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysValGlyLeuMetArgAspValGluSerSerSerArgGlyCysLeuValIleMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781381" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000681785.1:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000505166.1:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000505166.1:p.Tyr52_Lys356del" }, "referenceSequence": "http://reg.genome.network/refseq/RS781388" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "T", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000216639.7:c.156T>A" ], "proteinEffect": { "hgvs": "ENSP00000216639.3:p.Tyr52Ter", "hgvsWellDefined": "ENSP00000216639.3:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248034" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "ENST00000555351.1:n.224T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS371367" }, { "@id": "http://reg.genome.network/allele/PA1139709454", "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "T", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.2:c.156T>A" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Tyr52Ter", "hgvsWellDefined": "NP_003375.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028631" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.2:c.156T>A" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Tyr52Ter", "hgvsWellDefined": "XP_006720310.1:p.Tyr52_Lys420delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073571" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_011537132.1:c.156T>A" ], "proteinEffect": { "hgvs": "XP_011535434.1:p.Tyr52Ter", "hgvsWellDefined": "XP_011535434.1:p.Tyr52_Lys419delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104102" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_006720247.4:c.156T>A" ], "proteinEffect": { "hgvs": "XP_006720310.1:p.Tyr52Ter", "hgvsWellDefined": "XP_006720310.1:p.Tyr52_Lys420delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540052" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021624.2:c.156T>A" ], "proteinEffect": { "hgvs": "XP_016877113.1:p.Tyr52Ter", "hgvsWellDefined": "XP_016877113.1:p.Tyr52_Lys395delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572774" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "T", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021625.1:c.162T>A" ], "proteinEffect": { "hgvs": "XP_016877114.1:p.Tyr54Ter", "hgvsWellDefined": "XP_016877114.1:p.Tyr54_Lys398delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572775" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XM_017021626.2:c.156T>A" ], "proteinEffect": { "hgvs": "XP_016877115.1:p.Tyr52Ter", "hgvsWellDefined": "XP_016877115.1:p.Tyr52_Val244delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAspThrGluLysIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572776" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "T", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "XR_001750539.2:n.224T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597768" }, { "@id": "http://reg.genome.network/allele/PA1139709454", "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "T", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN012718", "geneNCBI_id": 7443, "geneSymbol": "VRK1", "hgvs": [ "NM_003384.3:c.156T>A" ], "proteinEffect": { "hgvs": "NP_003375.1:p.Tyr52Ter", "hgvsWellDefined": "NP_003375.1:p.Tyr52_Lys396delinsLeuAlaAspMetAsnSerSerGluSerValGlySerAspAlaProCysValValLysValGluProSerAspAsnGlyProLeuPheThrGluLeuLysPheTyrGlnArgAlaAlaLysProGluGlnIleGlnLysTrpIleArgThrArgLysLeuLysTyrLeuGlyValProLysTyrTrpGlySerGlyLeuHisAspLysAsnGlyLysSerTyrArgPheMetIleMetAspArgPheGlySerAspLeuGlnLysIleTyrGluAlaAsnAlaLysArgPheSerArgLysThrValLeuGlnLeuSerLeuArgIleLeuAspIleLeuGluTyrIleHisGluHisGluTyrValHisGlyAspIleLysAlaSerAsnLeuLeuLeuAsnTyrLysAsnProAspGlnValTyrLeuValAspTyrGlyLeuAlaTyrArgTyrCysProGluGlyValHisLysGluTyrLysGluAspProLysArgCysHisAspGlyThrIleGluPheThrSerIleAspAlaHisAsnGlyValAlaProSerArgArgGlyAspLeuGluIleLeuGlyTyrCysMetIleGlnTrpLeuThrGlyHisLeuProTrpGluAspAsnLeuLysAspProLysTyrValArgAspSerLysIleArgTyrArgGluAsnIleAlaSerLeuMetAspLysCysPheProGluLysAsnLysProGlyGluIleAlaLysTyrMetGluThrValLysLeuLeuAspTyrThrGluLysProLeuTyrGluAsnLeuArgAspIleLeuLeuGlnGlyLeuLysAlaIleGlySerLysAspAspGlyLysLeuAspLeuSerValValGluAsnGlyGlyLeuLysAlaLysThrIleThrLysLysArgLysLysGluIleGluGluSerLysGluProGlyValGluAspThrGluTrpSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666018", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216639.8:c.156T>A" }, "RefSeq": { "hgvs": "NM_003384.3:c.156T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216639.3:p.Tyr52Ter" }, "RefSeq": { "hgvs": "NP_003375.1:p.Tyr52Ter" } } } } ], "type": "nucleotide" }