{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10163802", "communityStandardTitle": [ "NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584876[alleleid]", "alleleId": 584876, "preferredName": "NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593813", "RCV": [ "RCV000728955", "RCV003461002" ], "variationId": 593813 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-26873087-G-A", "id": "22-26873087-G-A", "variant": "22:26873087 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26873087G>A?assembly=hg19", "id": "chr22:g.26873087G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26477121G>A?assembly=hg38", "id": "chr22:g.26477121G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/372020804", "rs": 372020804 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26873087-G-A?dataset=gnomad_r2_1", "id": "22-26873087-G-A", "variant": "22:26873087 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26477121-G-A?dataset=gnomad_r4", "id": "22-26477121-G-A", "variant": "22:26477121 G / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26477121, "referenceAllele": "G", "start": 26477120 } ], "hgvs": [ "NC_000022.11:g.26477121G>A", "CM000684.2:g.26477121G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26873087, "referenceAllele": "G", "start": 26873086 } ], "hgvs": [ "NC_000022.10:g.26873087G>A", "CM000684.1:g.26873087G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { 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"http://reg.genome.network/refseq/RS910167" }, { "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699228.1:n.698C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910168" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699234.1:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000514222.1:p.Gln45Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:p.Gln50Ter", "hgvsWellDefined": "ENSP00000514236.1:p.Gln50_Tyr226delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.698C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699253.1:n.718C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910193" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699254.1:n.491C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910194" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699255.1:n.234C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910195" }, { "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699256.1:n.665C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910196" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln50Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.148C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.148C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln50Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln50Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Gln50Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln50Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Gln45Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Gln45_Leu703delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Gln50Ter", "hgvsWellDefined": "ENSP00000415081.2:p.Gln50Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:p.Gln45Ter", "hgvsWellDefined": "ENSP00000399705.1:p.Gln45_Ala191delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.148C>T" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:p.Gln50Ter", "hgvsWellDefined": "ENSP00000406764.1:p.Gln50_Ala196delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "T", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:p.Gln45Ter", "hgvsWellDefined": "ENSP00000430291.1:p.Gln45_Pro167delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.719C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "T", "end": 163, "referenceAllele": "C", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000481910.1:n.163C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321731" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000483631.1:n.607C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323050" }, { "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "C", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.240C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA913196895", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.148C>T", "LRG_590t1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln50Ter", "hgvsWellDefined": "NP_071364.4:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA2830296939", "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.133C>T", "LRG_590t2:c.133C>T" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Gln45Ter", "hgvsWellDefined": "NP_690054.1:p.Gln45_Leu703delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.725C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.433C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Gln50Ter", "hgvsWellDefined": "XP_006724416.1:p.Gln50_Leu726delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Gln50Ter", "hgvsWellDefined": "XP_006724417.1:p.Gln50_Leu726delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln50_Leu734delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln50_Asp724delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln50_Ser699delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528795.1:p.Gln50_Asn693delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "C", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.-645C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-645C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.807C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827463383", "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336825.1:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827464434", "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336827.1:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827465443", "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336828.1:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827466432", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336829.1:p.Gln50_Leu726delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2827467478", "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336830.1:p.Gln50_Leu726delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "@id": "http://reg.genome.network/allele/PA2827468440", "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336831.1:p.Gln50_Asn649delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "@id": "http://reg.genome.network/allele/PA2827469289", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336832.1:p.Gln50_Asn649delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470100", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln50_Ser655delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827470973", "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336834.1:p.Gln50_Ser655delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.816C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.725C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.745C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.725C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.816C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.816C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln50_Leu752delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln50_Leu734delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln50_Asp724delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln50Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln50_Ser699delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln50Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "T", "end": 103, "referenceAllele": "C", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.-645C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-645C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Gln50Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.148C>T" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Gln50Ter", "hgvsWellDefined": 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"geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.711C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.802C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.802C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "@id": "http://reg.genome.network/allele/PA2827464434", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336827.1:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "@id": "http://reg.genome.network/allele/PA2827465443", "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336828.1:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "@id": "http://reg.genome.network/allele/PA2827466432", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336829.1:p.Gln50_Leu726delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "@id": "http://reg.genome.network/allele/PA2827469289", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336832.1:p.Gln50_Asn649delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470100", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln50Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln50_Ser655delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "C", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.240C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.736C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.665C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.736C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA913196895", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.148C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln50Ter", "hgvsWellDefined": "NP_071364.4:p.Gln50_Leu708delinsGluLeuLeuCysGlyGlnIleAlaGlyValValArgCysValSerAspIleSerAspSerProProThrLeuValArgLeuArgLysLeuLysPheAlaIleLysValAspGlyAspTyrLeuTrpValLeuGlyCysAlaValGluLeuProAspValSerCysLysArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.148C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.148C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln50Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln50Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.736C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }