{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344919985", "communityStandardTitle": [ "NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834785[alleleid]", "alleleId": 2834785, "preferredName": "NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676365", "RCV": [ "RCV003461810" ], "variationId": 2676365 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235896836C>T?assembly=hg19", "id": "chr1:g.235896836C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235733536C>T?assembly=hg38", "id": "chr1:g.235733536C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1346066490", "rs": 1346066490 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235896836-C-T?dataset=gnomad_r2_1", "id": "1-235896836-C-T", "variant": "1:235896836 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235733536-C-T?dataset=gnomad_r4", "id": "1-235733536-C-T", "variant": "1:235733536 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235733536, "referenceAllele": "C", "start": 235733535 } ], "hgvs": [ "NC_000001.11:g.235733536C>T", "CM000663.2:g.235733536C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235896836, "referenceAllele": "C", "start": 235896835 } ], "hgvs": [ "NC_000001.10:g.235896836C>T", "CM000663.1:g.235896836C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 233963459, "referenceAllele": "C", "start": 233963458 } ], "hgvs": [ "NC_000001.9:g.233963459C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 155105, "referenceAllele": "G", "start": 155104 } ], "hgvs": [ "NG_007397.1:g.155105G>A", "LRG_143:g.155105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4296, "referenceAllele": "G", "start": 4295 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.4296G>A" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:n.4296G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.2:c.863G>A" ], "proteinEffect": { "hgvs": "ENSP00000513164.1:p.Trp288Ter", "hgvsWellDefined": "ENSP00000513164.1:p.Trp288_Phe629delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905228" }, { "coordinates": [ { "allele": "A", "end": 8824, "referenceAllele": "G", "start": 8823 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*4192G>A" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*4192G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "A", "end": 2477, "referenceAllele": "G", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:p.Trp826Ter", "hgvsWellDefined": "ENSP00000513203.1:p.Trp826_Leu1011delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysLysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "G", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697240.1:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000513205.1:p.Trp301Ter", "hgvsWellDefined": "ENSP00000513205.1:p.Trp301_Met1076delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerGlyArgSerSerValProTrpLeuSerProThrSerLeuArgGluTyrLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908628" }, { "coordinates": [ { "allele": "A", "end": 3248, "referenceAllele": "G", "start": 3247 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.3248G>A" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Trp1083Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Trp1083_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "A", "end": 8929, "referenceAllele": "G", "start": 8928 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.8768G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp2923Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp2923_Gly3801delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.8768G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.8768G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp2923Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp2923Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 8943, "referenceAllele": "G", "start": 8942 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.8768G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp2923Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp2923_Gly3801delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "A", "end": 8520, "referenceAllele": "G", "start": 8519 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*4192G>A" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*4192G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "A", "end": 3758, "referenceAllele": "G", "start": 3757 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000473037.5:n.3758G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314875" }, { "@id": "http://reg.genome.network/allele/PA2825050101", "coordinates": [ { "allele": "A", "end": 8950, "referenceAllele": "G", "start": 8949 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.8768G>A", "LRG_143t1:c.8768G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp2923Ter", "hgvsWellDefined": "NP_000072.2:p.Trp2923_Gly3801delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "@id": "http://reg.genome.network/allele/PA2741854195", "coordinates": [ { "allele": "A", "end": 9387, "referenceAllele": "G", "start": 9386 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.8768G>A", "LRG_143t2:c.8768G>A" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Trp2923Ter", "hgvsWellDefined": "NP_001288294.1:p.Trp2923_Gly3801delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "A", "end": 9112, "referenceAllele": "G", "start": 9111 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542333.1:p.Trp2977_Gly3855delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "A", "end": 9515, "referenceAllele": "G", "start": 9514 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542334.1:p.Trp2977_Gly3855delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "A", "end": 9313, "referenceAllele": "G", "start": 9312 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp2977_Gly3855delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "A", "end": 8974, "referenceAllele": "G", "start": 8973 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.8792G>A" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Trp2931Ter", "hgvsWellDefined": "XP_011542336.1:p.Trp2931_Gly3809delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "A", "end": 9112, "referenceAllele": "G", "start": 9111 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp2977_Phe3318delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "A", "end": 6757, "referenceAllele": "G", "start": 6756 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.6593G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2198Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2198_Gly3076delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "A", "end": 9262, "referenceAllele": "G", "start": 9261 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp2977_Gly3855delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "A", "end": 9112, "referenceAllele": "G", "start": 9111 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp2977Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp2977_Phe3318delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "A", "end": 6766, "referenceAllele": "G", "start": 6765 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.6593G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2198Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2198_Gly3076delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "A", "end": 9112, "referenceAllele": "G", "start": 9111 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.8930G>A" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Trp2977Ter", "hgvsWellDefined": "XP_016855639.1:p.Trp2977_Gly3778delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "A", "end": 9803, "referenceAllele": "G", "start": 9802 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.9803G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "@id": "http://reg.genome.network/allele/PA2825050101", "coordinates": [ { "allele": "A", "end": 8929, "referenceAllele": "G", "start": 8928 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.8768G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp2923Ter", "hgvsWellDefined": "NP_000072.2:p.Trp2923_Gly3801delinsGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.8768G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.8768G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp2923Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp2923Ter" } } } } ], "type": "nucleotide" }