{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344945484", "communityStandardTitle": [ "NM_000081.4(LYST):c.9240G>A (p.Trp3080Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235887403C>T?assembly=hg19", "id": "chr1:g.235887403C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235724103C>T?assembly=hg38", "id": "chr1:g.235724103C>T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235724103, "referenceAllele": "C", "start": 235724102 } ], "hgvs": [ "NC_000001.11:g.235724103C>T", "CM000663.2:g.235724103C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235887403, "referenceAllele": "C", "start": 235887402 } ], "hgvs": [ "NC_000001.10:g.235887403C>T", "CM000663.1:g.235887403C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 233954026, "referenceAllele": "C", "start": 233954025 } ], "hgvs": [ "NC_000001.9:g.233954026C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 164538, "referenceAllele": "G", "start": 164537 } ], "hgvs": [ "NG_007397.1:g.164538G>A", "LRG_143:g.164538G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4768, "referenceAllele": "G", "start": 4767 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.4768G>A" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:n.4768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.2:c.1335G>A" ], "proteinEffect": { "hgvs": "ENSP00000513164.1:p.Trp445Ter", "hgvsWellDefined": "ENSP00000513164.1:p.Trp445_Phe629delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905228" }, { "coordinates": [ { "allele": "A", "end": 9296, "referenceAllele": "G", "start": 9295 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*4664G>A" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*4664G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "A", "end": 2949, "referenceAllele": "G", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.2949G>A" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:p.Trp983Ter", "hgvsWellDefined": "ENSP00000513203.1:p.Trp983_Leu1011delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysLysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "G", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697237.1:c.196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908625" }, { "coordinates": [ { "allele": "A", "end": 1374, "referenceAllele": "G", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697240.1:c.1374G>A" ], "proteinEffect": { "hgvs": "ENSP00000513205.1:p.Trp458Ter", "hgvsWellDefined": "ENSP00000513205.1:p.Trp458_Met1076delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerGlyArgSerSerValProTrpLeuSerProThrSerLeuArgGluTyrLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908628" }, { "coordinates": [ { "allele": "A", "end": 3720, "referenceAllele": "G", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.3720G>A" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Trp1240Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Trp1240_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "A", "end": 9401, "referenceAllele": "G", "start": 9400 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.9240G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp3080Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp3080_Gly3801delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9240G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9240G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3080Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3080Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9415, "referenceAllele": "G", "start": 9414 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.9240G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp3080Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp3080_Gly3801delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "A", "end": 8992, "referenceAllele": "G", "start": 8991 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*4664G>A" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*4664G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000473037.5:n.4230G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314875" }, { "coordinates": [ { "allele": "A", "end": 106, "referenceAllele": "G", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.1:n.106G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316594" }, { "@id": "http://reg.genome.network/allele/PA2825050204", "coordinates": [ { "allele": "A", "end": 9422, "referenceAllele": "G", "start": 9421 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.9240G>A", "LRG_143t1:c.9240G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp3080Ter", "hgvsWellDefined": "NP_000072.2:p.Trp3080_Gly3801delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "@id": "http://reg.genome.network/allele/PA2741854202", "coordinates": [ { "allele": "A", "end": 9859, "referenceAllele": "G", "start": 9858 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.9240G>A", "LRG_143t2:c.9240G>A" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Trp3080Ter", "hgvsWellDefined": "NP_001288294.1:p.Trp3080_Gly3801delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "A", "end": 9584, "referenceAllele": "G", "start": 9583 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542333.1:p.Trp3134_Gly3855delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "A", "end": 9987, "referenceAllele": "G", "start": 9986 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542334.1:p.Trp3134_Gly3855delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "A", "end": 9785, "referenceAllele": "G", "start": 9784 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp3134_Gly3855delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "A", "end": 9446, "referenceAllele": "G", "start": 9445 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.9264G>A" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Trp3088Ter", "hgvsWellDefined": "XP_011542336.1:p.Trp3088_Gly3809delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "A", "end": 9584, "referenceAllele": "G", "start": 9583 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp3134_Phe3318delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "A", "end": 7229, "referenceAllele": "G", "start": 7228 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.7065G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2355Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2355_Gly3076delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "A", "end": 9734, "referenceAllele": "G", "start": 9733 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp3134_Gly3855delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "A", "end": 9584, "referenceAllele": "G", "start": 9583 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp3134Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp3134_Phe3318delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "A", "end": 7238, "referenceAllele": "G", "start": 7237 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.7065G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2355Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2355_Gly3076delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "A", "end": 9584, "referenceAllele": "G", "start": 9583 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.9402G>A" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Trp3134Ter", "hgvsWellDefined": "XP_016855639.1:p.Trp3134_Gly3778delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "A", "end": 10275, "referenceAllele": "G", "start": 10274 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.10275G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "@id": "http://reg.genome.network/allele/PA2825050204", "coordinates": [ { "allele": "A", "end": 9401, "referenceAllele": "G", "start": 9400 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.9240G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp3080Ter", "hgvsWellDefined": "NP_000072.2:p.Trp3080_Gly3801delinsGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9240G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9240G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3080Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3080Ter" } } } } ], "type": "nucleotide" }