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}, "referenceSequence": "http://reg.genome.network/refseq/RS110951" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.1:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Leu2017Ter", "hgvsWellDefined": "XP_011542341.1:p.Leu2017_Ala2555delinsAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110952" }, { "coordinates": [ { "allele": "G", "end": 6143, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "T", "start": 6143, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544040.1:c.5962-3T>G" ], "proteinEffect": { "hgvs": "XP_011542342.1:n.5962-3T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS110953" }, { "coordinates": [ { "allele": "G", "end": 6382, "referenceAllele": "T", "start": 6381 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Leu2017Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Leu2017Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "G", "end": 3886, "referenceAllele": "T", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.3713T>G" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Leu1238Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.2:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Leu2017Ter", "hgvsWellDefined": "XP_011542339.1:p.Leu2017_His2876delinsAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.2:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Leu2017Ter", "hgvsWellDefined": "XP_011542341.1:p.Leu2017_Ala2555delinsAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555481" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.6050T>G" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Leu2017Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "G", "end": 6005, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "T", "start": 6005, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000151.1:c.5824-3T>G" ], "proteinEffect": { "hgvs": "XP_016855640.1:n.5824-3T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS556568" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.6232T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.6232T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "G", "end": 6232, "referenceAllele": "T", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.6232T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "G", "end": 6143, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "T", "start": 6143, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_002959252.1:n.6144-3T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605185" }, { "coordinates": [ { "allele": "G", "end": 6211, "referenceAllele": "T", "start": 6210 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.6050T>G" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Leu2017Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.6050T>G" }, "RefSeq": { "hgvs": "NM_000081.4:c.6050T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Leu2017Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Leu2017Ter" } } } } ], "type": "nucleotide" }