{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411031678", "communityStandardTitle": [ "NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834537[alleleid]", "alleleId": 2834537, "preferredName": "NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676116", "RCV": [ "RCV003469829" ], "variationId": 2676116 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26868866T>A?assembly=hg19", "id": "chr22:g.26868866T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26472900T>A?assembly=hg38", "id": "chr22:g.26472900T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149817614", "rs": 149817614 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26472900, "referenceAllele": "T", "start": 26472899 } ], "hgvs": [ "NC_000022.11:g.26472900T>A", "CM000684.2:g.26472900T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26868866, "referenceAllele": "T", "start": 26868865 } ], "hgvs": [ "NC_000022.10:g.26868866T>A", "CM000684.1:g.26868866T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 25198866, "referenceAllele": "T", "start": 25198865 } ], "hgvs": [ "NC_000022.9:g.25198866T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 15964, "referenceAllele": "A", "start": 15963 } ], "hgvs": [ "NG_009763.2:g.15964A>T", "LRG_590:g.15964A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "A", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.3:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.3:p.Lys106Ter", "hgvsWellDefined": "ENSP00000415081.3:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904782" }, { "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "A", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000473782.2:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514223.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514223.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905210" }, { "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "A", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000483631.2:c.-480A>T" ], "proteinEffect": { "hgvs": "ENSP00000514228.1:n.-480A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905307" }, { "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "A", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000491142.2:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514221.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514221.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905383" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "A", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699227.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514220.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514220.1:p.Lys106_Tyr226delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910167" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699228.1:n.866A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910168" }, { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "A", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699233.1:n.187A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910173" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699234.1:c.301A>T" ], "proteinEffect": { "hgvs": "ENSP00000514222.1:p.Lys101Ter", "hgvsWellDefined": "ENSP00000514222.1:p.Lys101_Tyr221delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910174" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "A", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699235.1:c.-407A>T" ], "proteinEffect": { "hgvs": "ENSP00000514224.1:n.-407A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910175" }, { "coordinates": [ { "allele": "T", "end": 926, "referenceAllele": "A", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699236.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514225.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514225.1:p.Lys106_Leu237delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910176" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "A", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699237.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514226.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514226.1:p.Lys106_Leu255delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910177" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "A", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699238.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514227.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514227.1:p.Lys106_Ala196delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910178" }, { "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "A", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699239.1:n.782A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910179" }, { "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "A", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699240.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514229.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514229.1:p.Lys106_Pro172delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910180" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "A", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699241.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514230.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514230.1:p.Lys106_Ala196delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910181" }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "A", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699242.1:c.172A>T" ], "proteinEffect": { "hgvs": "ENSP00000514231.1:p.Lys58Ter", "hgvsWellDefined": "ENSP00000514231.1:p.Lys58_Leu678delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910182" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699243.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514232.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514232.1:p.Lys106_Tyr226delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910183" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699244.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514233.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514233.1:p.Lys106_Leu659delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910184" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "A", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699246.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514234.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514234.1:p.Lys106_Ala196delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910186" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "A", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699247.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514235.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514235.1:p.Lys106_Leu360delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "T", "end": 2386, "referenceAllele": "A", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.2386A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "A", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514236.1:p.Lys106_Tyr226delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnLysValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514237.1:p.Lys106_Asn649delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000514238.1:p.Lys106_Asp680delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.866A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "A", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699253.1:n.886A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910193" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "A", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699254.1:n.659A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910194" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "A", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699255.1:n.402A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910195" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Lys106Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.316A>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.316A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Lys106Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Lys106Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "A", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Lys106Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Lys106Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "A", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.301A>T" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Lys101Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Lys101_Leu703delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "A", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Lys106Ter", "hgvsWellDefined": "ENSP00000415081.2:p.Lys106Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.301A>T" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:p.Lys101Ter", "hgvsWellDefined": "ENSP00000399705.1:p.Lys101_Ala191delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.316A>T" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:p.Lys106Ter", "hgvsWellDefined": "ENSP00000406764.1:p.Lys106_Ala196delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysAlaLeuSerTyrThrLeuSerSerCysSerValGlnProPheProLeuPheSerLeuProAspCysGluHisAlaAspGlyTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "T", "end": 59, "referenceAllele": "A", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000459918.1:n.59A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304780" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "A", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.301A>T" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:p.Lys101Ter", "hgvsWellDefined": "ENSP00000430291.1:p.Lys101_Pro167delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysGlyLeuLeuGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "A", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.887A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "T", "end": 51, "referenceAllele": "A", "start": 50 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.51A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "A", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.408A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA2741974363", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.316A>T", "LRG_590t1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Lys106Ter", "hgvsWellDefined": "NP_071364.4:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA2830296983", "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "A", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.301A>T", "LRG_590t2:c.301A>T" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Lys101Ter", "hgvsWellDefined": "NP_690054.1:p.Lys101_Leu703delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.893A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "A", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.601A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Lys106Ter", "hgvsWellDefined": "XP_006724416.1:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Lys106Ter", "hgvsWellDefined": "XP_006724417.1:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528787.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528788.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "A", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528789.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "A", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528790.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "A", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528791.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528792.1:p.Lys106_Leu734delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528793.1:p.Lys106_Asp724delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528794.1:p.Lys106_Ser699delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528795.1:p.Lys106_Asn693delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "A", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.-477A>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-477A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.975A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827463457", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336825.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827464492", "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336827.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827465510", "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "A", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336828.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827466497", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336829.1:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2827467544", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336830.1:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "@id": "http://reg.genome.network/allele/PA2827468509", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336831.1:p.Lys106_Asn649delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "@id": "http://reg.genome.network/allele/PA2827469320", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336832.1:p.Lys106_Asn649delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470139", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336833.1:p.Lys106_Ser655delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827471048", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336834.1:p.Lys106_Ser655delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.984A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.893A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "A", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.913A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.893A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.984A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.984A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528787.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528788.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "A", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528789.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "A", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528790.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "A", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528791.1:p.Lys106_Leu752delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528792.1:p.Lys106_Leu734delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528793.1:p.Lys106_Asp724delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528794.1:p.Lys106_Ser699delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.316A>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Lys106Ter", "hgvsWellDefined": "XP_011528795.1:p.Lys106_Asn693delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "A", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.-477A>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:n.-477A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Lys106Ter", "hgvsWellDefined": "XP_016884534.1:p.Lys106_Ser681delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Lys106Ter", "hgvsWellDefined": "XP_016884535.1:p.Lys106_Asp680delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.316A>T" ], "proteinEffect": { "hgvs": "XP_016884536.1:p.Lys106Ter", "hgvsWellDefined": "XP_016884536.1:p.Lys106_Asn675delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysSerHisGlyThrTrpSerAspIleLysProProValSerProTrpGlyLeuCysPheArgArgLysValGluAspArgValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.-256A>T" ], "proteinEffect": { "hgvs": "XP_016884541.1:n.-256A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.-656A>T" ], "proteinEffect": { "hgvs": "XP_016884545.1:n.-656A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.-614A>T" ], "proteinEffect": { "hgvs": "XP_016884550.1:n.-614A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.-480A>T" ], "proteinEffect": { "hgvs": "XP_016884551.1:n.-480A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578668" }, { "coordinates": [ { "allele": "T", "end": 882, "referenceAllele": "A", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029063.2:c.-614A>T" ], "proteinEffect": { "hgvs": "XP_016884552.1:n.-614A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578669" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "A", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029064.2:c.-480A>T" ], "proteinEffect": { "hgvs": "XP_016884553.1:n.-480A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578670" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452298.1:c.-2600A>T" ], "proteinEffect": { "hgvs": "XP_024308066.1:n.-2600A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585795" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452299.1:c.-1154A>T" ], "proteinEffect": { "hgvs": "XP_024308067.1:n.-1154A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585796" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452300.1:c.-505A>T" ], "proteinEffect": { "hgvs": "XP_024308068.1:n.-505A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585797" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755361.2:n.970A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601115" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755364.1:n.880A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601116" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.879A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.970A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "A", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.970A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "@id": "http://reg.genome.network/allele/PA2827464492", "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336827.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "@id": "http://reg.genome.network/allele/PA2827465510", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "A", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336828.1:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "@id": "http://reg.genome.network/allele/PA2827466497", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336829.1:p.Lys106_Leu726delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyLysTrpMetLeuTrpSerPheLysAsnArgValThrHisGlnAsnProAsnGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "@id": "http://reg.genome.network/allele/PA2827469320", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336832.1:p.Lys106_Asn649delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470139", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.316A>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Lys106Ter", "hgvsWellDefined": "NP_001336833.1:p.Lys106_Ser655delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "A", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.408A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.904A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "A", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.833A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.904A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA2741974363", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.316A>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Lys106Ter", "hgvsWellDefined": "NP_071364.4:p.Lys106_Leu708delinsArgPheLeuAspGlnLeuValGlyPhePheAsnPheTyrAsnGlyProValSerLeuAlaTyrGluAsnCysSerGlnGluGluLeuSerThrGluTrpAspThrPheIleGluGlnIleLeuLysAsnThrSerAspLeuHisLysIlePheAsnSerLeuTrpAsnLeuAspGlnThrLysValGluProLeuLeuLeuLeuLysAlaAlaArgIleLeuGlnThrCysGlnArgSerProHisIleLeuAlaGlyCysIleLeuTyrLysGlyLeuIleValSerThrGlnLeuProProSerLeuThrAlaLysValLeuLeuHisArgThrAlaProGlnGluGlnArgLeuProThrGlyGluAspAlaProGlnGluHisGlyAlaAlaLeuProProAsnValGlnIleIleProValPheValThrLysGluGluAlaIleSerLeuHisGluPheProValGluGlnMetThrArgSerLeuAlaSerProAlaGlyLeuGlnAspGlySerAlaGlnHisHisProLysGlyGlySerThrSerAlaLeuLysGluAsnAlaThrGlyHisValGluSerMetAlaTrpThrThrProAspProThrSerProAspGluAlaCysProAspGlyArgLysGluAsnGlyCysLeuSerGlyHisAspLeuGluSerIleArgProAlaGlyLeuHisAsnSerAlaArgGlyGluValLeuGlyLeuSerSerSerLeuGlyLysGluLeuValPheLeuGlnGluGluLeuAspLeuSerGluIleHisIleProGluAlaGlnGluValGluMetAlaSerGlyHisPheAlaPheLeuHisValProValProAspGlyArgAlaProTyrCysLysAlaSerLeuSerAlaSerSerSerLeuGluProThrProProGluAspThrAlaIleSerSerLeuArgProProSerAlaProGluMetLeuThrGlnHisGlyAlaGlnGluGlnLeuGluAspHisProGlyHisSerSerGlnAlaProIleProArgAlaAspProLeuProArgArgThrArgArgProLeuLeuLeuProArgLeuAspProGlyGlnArgGlyAsnLysLeuProThrGlyGluGlnGlyLeuAspGluAspValAspGlyValCysGluSerHisAlaAlaProGlyLeuGluCysSerSerGlySerAlaAsnCysGlnGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.316A>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.316A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Lys106Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Lys106Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.904A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }