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"XP_011542340.1:p.Gln1929_His2842delinsGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110951" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.1:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Gln1929Ter", "hgvsWellDefined": "XP_011542341.1:p.Gln1929_Ala2555delinsGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110952" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544040.1:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542342.1:p.Gln1929Ter", "hgvsWellDefined": "XP_011542342.1:p.Gln1929_Thr2009delinsGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluGlnPheThrLeuLeuLeuIleLeuThrPheValThrIleProArgThrSerThrPheLeuCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110953" }, { "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "C", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Gln1929Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Gln1929Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "T", "end": 3621, "referenceAllele": "C", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.3448C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Gln1150Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.2:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Gln1929Ter", "hgvsWellDefined": "XP_011542339.1:p.Gln1929_His2876delinsGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.2:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Gln1929Ter", "hgvsWellDefined": "XP_011542341.1:p.Gln1929_Ala2555delinsGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555481" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.5785C>T" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Gln1929Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "T", "end": 5966, "endIntronDirection": "+", "endIntronOffset": 3545, "referenceAllele": "C", "start": 5966, "startIntronDirection": "+", "startIntronOffset": 3544 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000151.1:c.5784+3545C>T" ], "proteinEffect": { "hgvs": "XP_016855640.1:n.5784+3545C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS556568" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.5967C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.5967C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.5967C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "T", "end": 5967, "referenceAllele": "C", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_002959252.1:n.5967C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605185" }, { "coordinates": [ { "allele": "T", "end": 5946, "referenceAllele": "C", "start": 5945 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.5785C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Gln1929Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.5785C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.5785C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Gln1929Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Gln1929Ter" } } } } ], "type": "nucleotide" }