{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10163742", "communityStandardTitle": [ "NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2401399[alleleid]", "alleleId": 2401399, "preferredName": "NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2412668", "RCV": [ "RCV002789959", "RCV003730397" ], "variationId": 2412668 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-26868825-G-C", "id": "22-26868825-G-C", "variant": "22:26868825 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26868825G>C?assembly=hg19", "id": "chr22:g.26868825G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26472859G>C?assembly=hg38", "id": "chr22:g.26472859G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767168755", "rs": 767168755 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26868825-G-C?dataset=gnomad_r2_1", "id": "22-26868825-G-C", "variant": "22:26868825 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26472859-G-C?dataset=gnomad_r4", "id": "22-26472859-G-C", "variant": "22:26472859 G / C" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 26472859, "referenceAllele": "G", "start": 26472858 } ], "hgvs": [ "NC_000022.11:g.26472859G>C", "CM000684.2:g.26472859G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 26868825, "referenceAllele": "G", "start": 26868824 } ], "hgvs": [ "NC_000022.10:g.26868825G>C", "CM000684.1:g.26868825G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 25198825, "referenceAllele": "G", "start": 25198824 } ], "hgvs": [ "NC_000022.9:g.25198825G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 16005, "referenceAllele": "C", "start": 16004 } ], "hgvs": [ "NG_009763.2:g.16005C>G", "LRG_590:g.16005C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.3:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000415081.3:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000415081.3:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904782" }, { "coordinates": [ { "allele": "G", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000473782.2:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514223.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514223.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905210" }, { "coordinates": [ { "allele": "G", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000483631.2:c.-439C>G" ], "proteinEffect": { "hgvs": "ENSP00000514228.1:n.-439C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905307" }, { "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000491142.2:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514221.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514221.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905383" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699227.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514220.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514220.1:p.Tyr119_Tyr226delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910167" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699228.1:n.907C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910168" }, { "coordinates": [ { "allele": "G", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699233.1:n.228C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910173" }, { "coordinates": [ { "allele": "G", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699234.1:c.342C>G" ], "proteinEffect": { "hgvs": "ENSP00000514222.1:p.Tyr114Ter", "hgvsWellDefined": "ENSP00000514222.1:p.Tyr114_Tyr221delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910174" }, { "coordinates": [ { "allele": "G", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699235.1:c.-366C>G" ], "proteinEffect": { "hgvs": "ENSP00000514224.1:n.-366C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910175" }, { "coordinates": [ { "allele": "G", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699236.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514225.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514225.1:p.Tyr119_Leu237delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910176" }, { "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699237.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514226.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514226.1:p.Tyr119_Leu255delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910177" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699238.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514227.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514227.1:p.Tyr119_Ala196delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910178" }, { "coordinates": [ { "allele": "G", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699239.1:n.823C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910179" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699240.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514229.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514229.1:p.Tyr119_Pro172delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910180" }, { "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699241.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514230.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514230.1:p.Tyr119_Ala196delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910181" }, { "coordinates": [ { "allele": "G", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699242.1:c.213C>G" ], "proteinEffect": { "hgvs": "ENSP00000514231.1:p.Tyr71Ter", "hgvsWellDefined": "ENSP00000514231.1:p.Tyr71_Leu678delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910182" }, { "coordinates": [ { "allele": "G", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699243.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514232.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514232.1:p.Tyr119_Tyr226delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910183" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699244.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514233.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514233.1:p.Tyr119_Leu659delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910184" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699246.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514234.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514234.1:p.Tyr119_Ala196delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910186" }, { "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699247.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514235.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514235.1:p.Tyr119_Leu360delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "G", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.2427C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514236.1:p.Tyr119_Tyr226delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514237.1:p.Tyr119_Asn649delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000514238.1:p.Tyr119_Asp680delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.907C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "G", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699253.1:n.927C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910193" }, { "coordinates": [ { "allele": "G", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699254.1:n.700C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910194" }, { "coordinates": [ { "allele": "G", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699255.1:n.443C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910195" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.357C>G" }, "RefSeq": { "hgvs": "NM_022081.6:c.357C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Tyr119Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Tyr119Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "G", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "G", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.342C>G" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Tyr114Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Tyr114_Leu703delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "G", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000415081.2:p.Tyr119Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.342C>G" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:p.Tyr114Ter", "hgvsWellDefined": "ENSP00000399705.1:p.Tyr114_Ala191delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:p.Tyr119Ter", "hgvsWellDefined": "ENSP00000406764.1:p.Tyr119_Ala196delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "G", "end": 100, "referenceAllele": "C", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000459918.1:n.100C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS304780" }, { "coordinates": [ { "allele": "G", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.342C>G" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:p.Tyr114Ter", "hgvsWellDefined": "ENSP00000430291.1:p.Tyr114_Pro167delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "G", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.928C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "C", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.92C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "G", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.449C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA2580447786", "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.357C>G", "LRG_590t1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Tyr119Ter", "hgvsWellDefined": "NP_071364.4:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA2830297004", "coordinates": [ { "allele": "G", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.342C>G", "LRG_590t2:c.342C>G" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Tyr114Ter", "hgvsWellDefined": "NP_690054.1:p.Tyr114_Leu703delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.934C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "G", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.642C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Tyr119Ter", "hgvsWellDefined": "XP_006724416.1:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Tyr119Ter", "hgvsWellDefined": "XP_006724417.1:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528787.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528788.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "G", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528789.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "G", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528790.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528791.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528792.1:p.Tyr119_Leu734delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528793.1:p.Tyr119_Asp724delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528794.1:p.Tyr119_Ser699delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528795.1:p.Tyr119_Asn693delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "G", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.-436C>G" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-436C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "G", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.1016C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827463473", "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336825.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827464505", "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336827.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827465528", "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336828.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827466514", "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336829.1:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2827467563", "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336830.1:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "@id": "http://reg.genome.network/allele/PA2827468522", "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336831.1:p.Tyr119_Asn649delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "@id": "http://reg.genome.network/allele/PA2827469329", "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336832.1:p.Tyr119_Asn649delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470153", "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336833.1:p.Tyr119_Ser655delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827471065", "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336834.1:p.Tyr119_Ser655delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.1025C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.934C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.954C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.934C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.1025C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.1025C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528787.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528788.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "G", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528789.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "G", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528790.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528791.1:p.Tyr119_Leu752delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528792.1:p.Tyr119_Leu734delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528793.1:p.Tyr119_Asp724delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528794.1:p.Tyr119_Ser699delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.357C>G" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Tyr119Ter", "hgvsWellDefined": "XP_011528795.1:p.Tyr119_Asn693delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "G", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.-436C>G" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-436C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Tyr119Ter", "hgvsWellDefined": "XP_016884534.1:p.Tyr119_Ser681delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Tyr119Ter", "hgvsWellDefined": "XP_016884535.1:p.Tyr119_Asp680delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.357C>G" ], "proteinEffect": { "hgvs": "XP_016884536.1:p.Tyr119Ter", "hgvsWellDefined": "XP_016884536.1:p.Tyr119_Asn675delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.-215C>G" ], "proteinEffect": { "hgvs": "XP_016884541.1:n.-215C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.-615C>G" ], "proteinEffect": { "hgvs": "XP_016884545.1:n.-615C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.-573C>G" ], "proteinEffect": { "hgvs": "XP_016884550.1:n.-573C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.-439C>G" ], "proteinEffect": { "hgvs": "XP_016884551.1:n.-439C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578668" }, { "coordinates": [ { "allele": "G", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029063.2:c.-573C>G" ], "proteinEffect": { "hgvs": "XP_016884552.1:n.-573C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578669" }, { "coordinates": [ { "allele": "G", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029064.2:c.-439C>G" ], "proteinEffect": { "hgvs": "XP_016884553.1:n.-439C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS578670" }, { "coordinates": [ { "allele": "G", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452298.1:c.-2559C>G" ], "proteinEffect": { "hgvs": "XP_024308066.1:n.-2559C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS585795" }, { "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452299.1:c.-1113C>G" ], "proteinEffect": { "hgvs": "XP_024308067.1:n.-1113C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS585796" }, { "coordinates": [ { "allele": "G", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452300.1:c.-464C>G" ], "proteinEffect": { "hgvs": "XP_024308068.1:n.-464C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS585797" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755361.2:n.1011C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601115" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755364.1:n.921C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601116" }, { "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.920C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.1011C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.1011C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "@id": "http://reg.genome.network/allele/PA2827464505", "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336827.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "@id": "http://reg.genome.network/allele/PA2827465528", "coordinates": [ { "allele": "G", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336828.1:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "@id": "http://reg.genome.network/allele/PA2827466514", "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336829.1:p.Tyr119_Leu726delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "@id": "http://reg.genome.network/allele/PA2827469329", "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336832.1:p.Tyr119_Asn649delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470153", "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Tyr119Ter", "hgvsWellDefined": "NP_001336833.1:p.Tyr119_Ser655delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "G", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.449C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.945C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "G", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.874C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.945C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA2580447786", "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.357C>G" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Tyr119Ter", "hgvsWellDefined": "NP_071364.4:p.Tyr119_Leu708delinsAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.357C>G" }, "RefSeq": { "hgvs": "NM_022081.6:c.357C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Tyr119Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Tyr119Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.945C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }