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}, "referenceSequence": "http://reg.genome.network/refseq/RS248662" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "ENST00000395324.6:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000378734.2:p.Arg30Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276630" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "ENST00000546653.5:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000448659.1:p.Arg30Ter", "hgvsWellDefined": "ENSP00000448659.1:p.Arg30Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS365778" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "ENST00000547065.1:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000449074.1:p.Arg30Ter", "hgvsWellDefined": "ENSP00000449074.1:p.Arg30_Arg49delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366048" }, { "coordinates": [ { "allele": "T", "end": 379, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS367398" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "ENST00000550314.5:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000449561.1:p.Arg30Ter", "hgvsWellDefined": "ENSP00000449561.1:p.Arg30_Met106del" }, "referenceSequence": "http://reg.genome.network/refseq/RS367970" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "ENST00000550325.5:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000447173.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006438" }, { "@id": "http://reg.genome.network/allele/PA119043", "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001017535.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001017535.1:p.Arg30Ter", "hgvsWellDefined": "NP_001017535.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008596" }, { "@id": "http://reg.genome.network/allele/PA915956572", "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001017536.1:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001017536.1:p.Arg80Ter", "hgvsWellDefined": "NP_001017536.1:p.Arg80_Ser477delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008597" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "C", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "XM_006719587.2:c.88C>T" ], "proteinEffect": { "hgvs": "XP_006719650.1:p.Arg30Ter", "hgvsWellDefined": "XP_006719650.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073216" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "XM_011538720.1:c.88C>T" ], "proteinEffect": { "hgvs": "XP_011537022.1:p.Arg30Ter", "hgvsWellDefined": "XP_011537022.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105674" }, { "@id": "http://reg.genome.network/allele/PA2828130323", "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001364085.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001351014.1:p.Arg30Ter", "hgvsWellDefined": "NP_001351014.1:p.Arg30_Pro494delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523705" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "C", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "XM_006719587.3:c.88C>T" ], "proteinEffect": { "hgvs": "XP_006719650.1:p.Arg30Ter", "hgvsWellDefined": "XP_006719650.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539899" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "XM_011538720.2:c.88C>T" ], "proteinEffect": { "hgvs": "XP_011537022.1:p.Arg30Ter", "hgvsWellDefined": "XP_011537022.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553382" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "XM_024449178.1:c.157C>T" ], "proteinEffect": { "hgvs": "XP_024304946.1:p.Arg53Ter", "hgvsWellDefined": "XP_024304946.1:p.Arg53_Ser450delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582736" }, { "@id": "http://reg.genome.network/allele/PA2825159833", "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_000376.3:c.88C>T" ], "proteinEffect": { "hgvs": "NP_000367.1:p.Arg30Ter", "hgvsWellDefined": "NP_000367.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000549336.6:c.88C>T" }, "RefSeq": { "hgvs": "NM_000376.3:c.88C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000449573.2:p.Arg30Ter" }, "RefSeq": { "hgvs": "NP_000367.1:p.Arg30Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA119043", "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001017535.2:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001017535.1:p.Arg30Ter", "hgvsWellDefined": "NP_001017535.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675548" }, { "@id": "http://reg.genome.network/allele/PA915956572", "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001017536.2:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001017536.1:p.Arg80Ter", "hgvsWellDefined": "NP_001017536.1:p.Arg80_Ser477delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675549" }, { "@id": "http://reg.genome.network/allele/PA2828130323", "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001364085.2:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001351014.1:p.Arg30Ter", "hgvsWellDefined": "NP_001351014.1:p.Arg30_Pro494delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690806" }, { "@id": "http://reg.genome.network/allele/PA2828533604", "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001374661.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001361590.1:p.Arg30Ter", "hgvsWellDefined": "NP_001361590.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693339" }, { "@id": "http://reg.genome.network/allele/PA2828533848", "coordinates": [ { "allele": "T", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001374662.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001361591.1:p.Arg30Ter", "hgvsWellDefined": "NP_001361591.1:p.Arg30_Ser427delinsAlaThrGlyPheHisPheAsnAlaMetThrCysGluGlyCysLysGlyPhePheArgArgSerMetLysArgLysAlaLeuPheThrCysProPheAsnGlyAspCysArgIleThrLysAspAsnArgArgHisCysGlnAlaCysArgLeuLysArgCysValAspIleGlyMetMetLysGluPheIleLeuThrAspGluGluValGlnArgLysArgGluMetIleLeuLysArgLysGluGluGluAlaLeuLysAspSerLeuArgProLysLeuSerGluGluGlnGlnArgIleIleAlaIleLeuLeuAspAlaHisHisLysThrTyrAspProThrTyrSerAspPheCysGlnPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693340" } ], "type": "nucleotide" }