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"ENSP00000514235.1:p.Gln181_Leu360delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.2611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:p.Gln181Ter", "hgvsWellDefined": "ENSP00000514236.1:p.Gln181_Tyr226delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:p.Gln181Ter", "hgvsWellDefined": "ENSP00000514237.1:p.Gln181_Asn649delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Gln181Ter", "hgvsWellDefined": "ENSP00000514238.1:p.Gln181_Asp680delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.1091C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699253.1:n.2599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910193" }, { "coordinates": [ { "allele": "T", "end": 2785, "referenceAllele": "C", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699254.1:n.2785C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910194" }, { "coordinates": [ { "allele": "T", "end": 2115, "referenceAllele": "C", "start": 2114 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699255.1:n.2115C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910195" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln181Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.541C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.541C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln181Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln181Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Gln181Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln181Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Gln176Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Gln176_Leu703delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Gln181Ter", "hgvsWellDefined": "ENSP00000415081.2:p.Gln181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.*59C>T" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:n.*59C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, 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89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.1112C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.276C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA340177", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.541C>T", "LRG_590t1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln181Ter", "hgvsWellDefined": "NP_071364.4:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA340176", "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.526C>T", "LRG_590t2:c.526C>T" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Gln176Ter", "hgvsWellDefined": "NP_690054.1:p.Gln176_Leu703delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.1227C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.935C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.541C>T" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Gln181Ter", "hgvsWellDefined": "XP_006724416.1:p.Gln181_Leu726delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.541C>T" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Gln181Ter", "hgvsWellDefined": "XP_006724417.1:p.Gln181_Leu726delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.2:c.-148C>T" ], "proteinEffect": { "hgvs": "XP_006724423.1:n.-148C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075487" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln207_Leu734delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln207_Asp724delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln207_Ser699delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528795.1:p.Gln207_Asn693delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.-174C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-174C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827463541", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336825.1:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827464566", "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336827.1:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827465574", "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336828.1:p.Gln181_Leu708delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827466575", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336829.1:p.Gln181_Leu726delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2827467621", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336830.1:p.Gln181_Leu726delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "@id": "http://reg.genome.network/allele/PA2827468584", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336831.1:p.Gln181_Asn649delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "@id": "http://reg.genome.network/allele/PA2827469391", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336832.1:p.Gln181_Asn649delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470194", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln181_Ser655delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827471127", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Gln181Ter", "hgvsWellDefined": "NP_001336834.1:p.Gln181_Ser655delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.1318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.1118C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.1138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.1294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.1209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.1209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.3:c.-148C>T" ], "proteinEffect": { "hgvs": "XP_006724423.1:n.-148C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540959" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln207_Leu752delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln207_Leu734delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln207_Asp724delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln207_Ser699delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln207Ter", "hgvsWellDefined": "XP_011528795.1:p.Gln207_Asn693delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.-174C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-174C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Gln207Ter", "hgvsWellDefined": "XP_016884534.1:p.Gln207_Ser681delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "C", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.541C>T" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Gln181Ter", "hgvsWellDefined": "XP_016884535.1:p.Gln181_Asp680delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_016884536.1:p.Gln207Ter", "hgvsWellDefined": "XP_016884536.1:p.Gln207_Asn675delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.79C>T" ], "proteinEffect": { "hgvs": "XP_016884541.1:p.Gln27Ter", "hgvsWellDefined": "XP_016884541.1:p.Gln27_Leu572delinsThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.-255C>T" ], "proteinEffect": { "hgvs": "XP_016884545.1:n.-255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.-280C>T" ], "proteinEffect": { "hgvs": "XP_016884550.1:n.-280C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.-255C>T" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470194", "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln181Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.742C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.1238C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.1058C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 1129, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.541C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.541C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln181Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln181Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.1129C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }