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}, "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "C", "start": 399, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.314-1332C>A" ], "proteinEffect": { "hgvs": "ENSP00000437639.1:n.314-1332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.327C>A" ], "proteinEffect": { "hgvs": "ENSP00000453557.1:p.Cys109Ter", "hgvsWellDefined": "ENSP00000453557.1:p.Cys109_Ser948delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleAlaThrGluLeuGlyLeuTrpSerArgGlyGlnLeuCysAspArgAlaCysLeuSerLeuGlnCysSerSerSerSerPheAlaTrpGlySerSerPheTyrGlyArgThrGlyGlyLeuArgThrSerThrAlaSerThrLeuThrThrProSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThrAlaThrAlaThrProArgAspArgTrpSerValTrpArgMetThrTrpArgGluHisLeuProGlyValProSerLeuProArgThrLeuProGluThrSerProAlaLeuPheTyrSerLysThrGluLysThrLysAlaLeuProAlaArgAlaLeuPheTyrIlePheIleHisLeuGlyGlyArgThrGlyPheGlyGlnCysProCysAsnGlyLeuGlyTrpAspPheGlyPhePheLeuSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.327C>A" ], "proteinEffect": { "hgvs": "ENSP00000453346.1:p.Cys109Ter", "hgvsWellDefined": "ENSP00000453346.1:p.Cys109_Ala858delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.327C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Cys109Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Cys109_Ala860delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "@id": "http://reg.genome.network/allele/PA645375761", "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.327C>A", "LRG_274t1:c.327C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Cys109Ter", "hgvsWellDefined": "NP_000518.1:p.Cys109_Ala860delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "@id": "http://reg.genome.network/allele/PA2826211468", "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.327C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys109Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "@id": "http://reg.genome.network/allele/PA916001429", "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.204C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys68Ter", "hgvsWellDefined": 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{ "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.327C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys109Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "A", "end": 495, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "C", "start": 495, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.314-1332C>A" ], "proteinEffect": { "hgvs": "XP_011526313.1:n.314-1332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.477C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.327C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys109Ter", "hgvsWellDefined": 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"NP_000518.1:p.Cys109_Ala860delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.327C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.327C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Cys109Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Cys109Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826211468", "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.327C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys109Ter", "hgvsWellDefined": "NP_001182727.1:p.Cys109_Ala858delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA916001429", "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.204C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys68Ter", "hgvsWellDefined": "NP_001182728.1:p.Cys68_Ala819delinsSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 399, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.314-2159C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:n.314-2159C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "C", "start": 399, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.314-1332C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:n.314-1332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }