{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340188", "communityStandardTitle": [ "NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19170[alleleid]", "alleleId": 19170, "preferredName": "NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4131", "RCV": [ "RCV000004347" ], "variationId": 4131 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26868357C>A?assembly=hg19", "id": "chr22:g.26868357C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26472391C>A?assembly=hg38", "id": "chr22:g.26472391C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119471024", "rs": 119471024 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26472391-C-A?dataset=gnomad_r4", "id": "22-26472391-C-A", "variant": "22:26472391 C / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26472391, "referenceAllele": "C", "start": 26472390 } ], "hgvs": [ "NC_000022.11:g.26472391C>A", "CM000684.2:g.26472391C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26868357, "referenceAllele": "C", "start": 26868356 } ], "hgvs": [ "NC_000022.10:g.26868357C>A", "CM000684.1:g.26868357C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 25198357, "referenceAllele": "C", "start": 25198356 } ], "hgvs": [ "NC_000022.9:g.25198357C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 16473, "referenceAllele": "G", "start": 16472 } ], "hgvs": [ "NG_009763.2:g.16473G>T", "LRG_590:g.16473G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.3:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.3:p.Glu138Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS910174" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699235.1:c.-311G>T" ], "proteinEffect": { "hgvs": "ENSP00000514224.1:n.-311G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910175" }, { "coordinates": [ { "allele": "T", "end": 1022, "referenceAllele": "G", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699236.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514225.1:p.Glu138Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS910178" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699239.1:n.878G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910179" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "G", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699240.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514229.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514229.1:p.Glu138_Pro172delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910180" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": 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"ENSP00000514233.1:p.Glu138_Leu659delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910184" }, { "coordinates": [ { "allele": "T", "end": 1014, "referenceAllele": "G", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699246.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514234.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514234.1:p.Glu138_Ala196delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910186" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699247.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514235.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514235.1:p.Glu138_Leu360delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "T", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.2482G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514236.1:p.Glu138_Tyr226delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514237.1:p.Glu138_Asn649delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000514238.1:p.Glu138_Asp680delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.962G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699253.1:n.982G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910193" }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699254.1:n.1168G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910194" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699255.1:n.498G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910195" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Glu138Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.412G>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.412G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Glu138Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Glu138Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Glu138Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "G", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Glu138Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.397G>T" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Glu133Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Glu133_Leu703delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Glu138Ter", "hgvsWellDefined": "ENSP00000415081.2:p.Glu138Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.397G>T" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:p.Glu133Ter", "hgvsWellDefined": "ENSP00000399705.1:p.Glu133_Ala191delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000406764.1:p.Glu138_Ala196delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "T", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000459918.1:n.155G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304780" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.397G>T" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:p.Glu133Ter", "hgvsWellDefined": "ENSP00000430291.1:p.Glu133_Pro167delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "G", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.983G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.147G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.504G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA340192", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.412G>T", "LRG_590t1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Glu138Ter", "hgvsWellDefined": "NP_071364.4:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA340191", "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.397G>T", "LRG_590t2:c.397G>T" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Glu133Ter", "hgvsWellDefined": "NP_690054.1:p.Glu133_Leu703delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.989G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.697G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Glu138Ter", "hgvsWellDefined": "XP_006724416.1:p.Glu138_Leu726delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Glu138Ter", "hgvsWellDefined": "XP_006724417.1:p.Glu138_Leu726delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528787.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528788.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528789.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "T", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528790.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528791.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528792.1:p.Glu138_Leu734delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528793.1:p.Glu138_Asp724delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528794.1:p.Glu138_Ser699delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528795.1:p.Glu138_Asn693delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.-381G>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-381G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.1071G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827463493", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336825.1:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827464524", "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336827.1:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827465540", "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336828.1:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827466534", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336829.1:p.Glu138_Leu726delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2827467581", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336830.1:p.Glu138_Leu726delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "@id": "http://reg.genome.network/allele/PA2827468542", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336831.1:p.Glu138_Asn649delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "@id": "http://reg.genome.network/allele/PA2827469347", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336832.1:p.Glu138_Asn649delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470165", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336833.1:p.Glu138_Ser655delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827471083", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336834.1:p.Glu138_Ser655delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.1080G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.989G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.1009G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.989G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.1080G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.1080G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528787.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528788.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528789.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "T", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528790.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528791.1:p.Glu138_Leu752delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528792.1:p.Glu138_Leu734delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528793.1:p.Glu138_Asp724delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528794.1:p.Glu138_Ser699delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Glu138Ter", "hgvsWellDefined": "XP_011528795.1:p.Glu138_Asn693delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.-381G>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-381G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Glu138Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Glu138Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.412G>T" ], "proteinEffect": { "hgvs": "XP_016884536.1:p.Glu138Ter", "hgvsWellDefined": "XP_016884536.1:p.Glu138_Asn675delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.-160G>T" ], "proteinEffect": { "hgvs": "XP_016884541.1:n.-160G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.-560G>T" ], "proteinEffect": { "hgvs": "XP_016884545.1:n.-560G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.-518G>T" ], "proteinEffect": { "hgvs": "XP_016884550.1:n.-518G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.-384G>T" ], "proteinEffect": { "hgvs": "XP_016884551.1:n.-384G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578668" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029063.2:c.-518G>T" ], "proteinEffect": { "hgvs": "XP_016884552.1:n.-518G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578669" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029064.2:c.-384G>T" ], "proteinEffect": { "hgvs": "XP_016884553.1:n.-384G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578670" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452298.1:c.-2504G>T" ], "proteinEffect": { "hgvs": "XP_024308066.1:n.-2504G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585795" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452299.1:c.-1058G>T" ], "proteinEffect": { "hgvs": "XP_024308067.1:n.-1058G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585796" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452300.1:c.-409G>T" ], "proteinEffect": { "hgvs": "XP_024308068.1:n.-409G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585797" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755361.2:n.1066G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601115" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755364.1:n.976G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601116" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.975G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.1066G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.1066G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "@id": "http://reg.genome.network/allele/PA2827464524", "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "G", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336827.1:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "@id": "http://reg.genome.network/allele/PA2827465540", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336828.1:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "@id": "http://reg.genome.network/allele/PA2827466534", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336829.1:p.Glu138_Leu726delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "@id": "http://reg.genome.network/allele/PA2827469347", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336832.1:p.Glu138_Asn649delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470165", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.412G>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Glu138Ter", "hgvsWellDefined": "NP_001336833.1:p.Glu138_Ser655delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.504G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.1000G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.929G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.1000G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA340192", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.412G>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Glu138Ter", "hgvsWellDefined": "NP_071364.4:p.Glu138_Leu708delinsTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.412G>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.412G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Glu138Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Glu138Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.1000G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }