{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259784", "communityStandardTitle": [ "NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5859358", "active": true, "id": "COSM5859358" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39324[alleleid]", "alleleId": 39324, "preferredName": "NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30367", "RCV": [ "RCV000023315" ], "variationId": 30367 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38522451G>A?assembly=hg19", "id": "chr22:g.38522451G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38126444G>A?assembly=hg38", "id": "chr22:g.38126444G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387906864", 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"http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 84247, "referenceAllele": "C", "start": 84246 } ], "hgvs": [ "NG_007094.2:g.84247C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000475" }, { "coordinates": [ { "allele": "T", "end": 93335, "referenceAllele": "C", "start": 93334 } ], "hgvs": [ "NG_007094.3:g.93335C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733306" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.8:c.1354C>T" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Gln452Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS772835" }, { "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000664587.1:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000499394.1:p.Gln406Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773045" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000671093.1:n.1286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773124" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "C", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000673413.1:c.*1023C>T" ], "proteinEffect": { "hgvs": "ENSP00000500600.1:n.*1023C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773671" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.7:c.1354C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260146" }, { "coordinates": [ { "allele": "T", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000402064.5:c.1192C>T" ], "proteinEffect": { "hgvs": "ENSP00000386100.1:p.Gln398Ter", "hgvsWellDefined": "ENSP00000386100.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279399" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000448094.5:c.587C>T" ], "proteinEffect": { "hgvs": "ENSP00000407106.1:p.Thr196Ile", "hgvsWellDefined": "ENSP00000407106.1:p.Thr196Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS299571" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000471636.5:n.496C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313783" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000490473.1:n.473C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328285" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000491986.1:n.312C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329469" }, { "@id": "http://reg.genome.network/allele/PA2825266112", "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.1:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Gln398Ter", "hgvsWellDefined": "NP_001004426.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007462" }, { "@id": "http://reg.genome.network/allele/PA2826244521", "coordinates": [ { "allele": "T", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.1:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Gln398Ter", "hgvsWellDefined": "NP_001186491.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017130" }, { "@id": "http://reg.genome.network/allele/PA259785", "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.2:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Gln452Ter", "hgvsWellDefined": "NP_003551.2:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028794" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.1:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Gln452Ter", "hgvsWellDefined": "XP_005261821.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063212" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.1:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Gln452Ter", "hgvsWellDefined": "XP_005261822.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063213" }, { "coordinates": [ { "allele": "T", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261766.1:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_005261823.1:p.Gln452Ter", "hgvsWellDefined": "XP_005261823.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063214" }, { "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.2:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Gln452Ter", "hgvsWellDefined": "XP_006724395.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075479" }, { "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530422.1:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011528724.1:p.Gln417Ter", "hgvsWellDefined": "XP_011528724.1:p.Gln417_Pro771delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097479" }, { "coordinates": [ { "allele": "T", "end": 1577, "referenceAllele": "C", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530423.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_011528725.1:p.Gln274Ter", "hgvsWellDefined": "XP_011528725.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097480" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530424.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_011528726.1:p.Gln274Ter", "hgvsWellDefined": "XP_011528726.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097481" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530425.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_011528727.1:p.Gln274Ter", "hgvsWellDefined": "XP_011528727.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097482" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.1:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Gln452Ter", "hgvsWellDefined": "XP_011528728.1:p.Gln452_Leu593delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097483" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.1:n.1462C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116743" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244392.1:n.1462C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116744" }, { "coordinates": [ { "allele": "T", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430411.1:n.1514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118692" }, { "coordinates": [ { "allele": "T", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430412.1:n.1514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118693" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937937.1:n.1462C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132696" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.1:n.1462C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132697" }, { "coordinates": [ { "allele": "T", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.1:n.1514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132698" }, { "coordinates": [ { "allele": "T", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.1:n.1514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132699" }, { "@id": "http://reg.genome.network/allele/PA2825266112", "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.2:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Gln398Ter", "hgvsWellDefined": "NP_001004426.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510928" }, { "@id": "http://reg.genome.network/allele/PA2826244521", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.2:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Gln398Ter", "hgvsWellDefined": "NP_001186491.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511837" }, { "@id": "http://reg.genome.network/allele/PA2827515790", "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.1:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Gln452Ter", "hgvsWellDefined": "NP_001336793.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518982" }, { "@id": "http://reg.genome.network/allele/PA2827516407", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.1:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Gln398Ter", "hgvsWellDefined": "NP_001336794.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518983" }, { "@id": "http://reg.genome.network/allele/PA2827517024", "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "C", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.1:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Gln398Ter", "hgvsWellDefined": "NP_001336795.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518984" }, { "@id": "http://reg.genome.network/allele/PA2827517541", "coordinates": [ { "allele": "T", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.1:c.820C>T" ], "proteinEffect": { "hgvs": "NP_001336796.1:p.Gln274Ter", "hgvsWellDefined": "NP_001336796.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518985" }, { "@id": "http://reg.genome.network/allele/PA2827459158", "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.1:c.676C>T" ], "proteinEffect": { "hgvs": "NP_001336797.1:p.Gln226Ter", "hgvsWellDefined": "NP_001336797.1:p.Gln226_Pro580delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518986" }, { "@id": "http://reg.genome.network/allele/PA2827460159", "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "C", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.1:c.658C>T" ], "proteinEffect": { "hgvs": "NP_001336798.1:p.Gln220Ter", "hgvsWellDefined": "NP_001336798.1:p.Gln220_Pro574delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518987" }, { "@id": "http://reg.genome.network/allele/PA259785", "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.3:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Gln452Ter", "hgvsWellDefined": "NP_003551.2:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525111" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.3:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Gln452Ter", "hgvsWellDefined": "XP_005261821.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535363" }, { "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.2:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Gln452Ter", "hgvsWellDefined": "XP_005261822.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535364" }, { "coordinates": [ { "allele": "T", "end": 1467, "referenceAllele": "C", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.4:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Gln452Ter", "hgvsWellDefined": "XP_006724395.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540956" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.3:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Gln452Ter", "hgvsWellDefined": "XP_011528728.1:p.Gln452_Leu593delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549971" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "C", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028983.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_016884472.1:p.Gln220Ter", "hgvsWellDefined": "XP_016884472.1:p.Gln220_Pro574delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578612" }, { "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028986.2:c.1192C>T" ], "proteinEffect": { "hgvs": "XP_016884475.1:p.Gln398Ter", "hgvsWellDefined": "XP_016884475.1:p.Gln398_Leu539delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578613" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028987.2:c.1406C>T" ], "proteinEffect": { "hgvs": "XP_016884476.1:p.Thr469Ile", "hgvsWellDefined": "XP_016884476.1:p.Thr469Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS578614" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028988.2:c.1354C>T" ], "proteinEffect": { "hgvs": "XP_016884477.1:p.Gln452Ter", "hgvsWellDefined": "XP_016884477.1:p.Gln452_Thr479delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrCysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578615" }, { "coordinates": [ { "allele": "T", "end": 1636, "referenceAllele": "C", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452280.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_024308048.1:p.Gln274Ter", "hgvsWellDefined": "XP_024308048.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585777" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452281.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_024308049.1:p.Gln274Ter", "hgvsWellDefined": "XP_024308049.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585778" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452282.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_024308050.1:p.Gln274Ter", "hgvsWellDefined": "XP_024308050.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585779" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452283.1:c.676C>T" ], "proteinEffect": { "hgvs": "XP_024308051.1:p.Gln226Ter", "hgvsWellDefined": "XP_024308051.1:p.Gln226_Pro580delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585780" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452284.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_024308052.1:p.Gln220Ter", "hgvsWellDefined": "XP_024308052.1:p.Gln220_Pro574delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585781" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452285.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_024308053.1:p.Gln220Ter", "hgvsWellDefined": "XP_024308053.1:p.Gln220_Pro574delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585782" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755325.2:n.1446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601102" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755327.2:n.1446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601103" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755328.2:n.1498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601104" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.3:n.1446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606091" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.3:n.1446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611758" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.3:n.1498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611759" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.3:n.1498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611760" }, { "@id": "http://reg.genome.network/allele/PA2826244521", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.3:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Gln398Ter", "hgvsWellDefined": "NP_001186491.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679576" }, { "@id": "http://reg.genome.network/allele/PA2827515790", "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.2:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Gln452Ter", "hgvsWellDefined": "NP_001336793.1:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688118" }, { "@id": "http://reg.genome.network/allele/PA2827516407", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.2:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Gln398Ter", "hgvsWellDefined": "NP_001336794.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688119" }, { "@id": "http://reg.genome.network/allele/PA2827517024", "coordinates": [ { "allele": "T", "end": 1280, "referenceAllele": "C", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.2:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Gln398Ter", "hgvsWellDefined": "NP_001336795.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688120" }, { "@id": "http://reg.genome.network/allele/PA2827517541", "coordinates": [ { "allele": "T", "end": 1577, "referenceAllele": "C", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.2:c.820C>T" ], "proteinEffect": { "hgvs": "NP_001336796.1:p.Gln274Ter", "hgvsWellDefined": "NP_001336796.1:p.Gln274_Pro628delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688121" }, { "@id": "http://reg.genome.network/allele/PA2827459158", "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.2:c.676C>T" ], "proteinEffect": { "hgvs": "NP_001336797.1:p.Gln226Ter", "hgvsWellDefined": "NP_001336797.1:p.Gln226_Pro580delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688122" }, { "@id": "http://reg.genome.network/allele/PA2827460159", "coordinates": [ { "allele": "T", "end": 1415, "referenceAllele": "C", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.2:c.658C>T" ], "proteinEffect": { "hgvs": "NP_001336798.1:p.Gln220Ter", "hgvsWellDefined": "NP_001336798.1:p.Gln220_Pro574delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688123" }, { "@id": "http://reg.genome.network/allele/PA259785", "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.4:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Gln452Ter", "hgvsWellDefined": "NP_003551.2:p.Gln452_Pro806delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.1354C>T" }, "RefSeq": { "hgvs": "NM_003560.4:c.1354C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Gln452Ter" }, "RefSeq": { "hgvs": "NP_003551.2:p.Gln452Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825266112", "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.3:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Gln398Ter", "hgvsWellDefined": "NP_001004426.1:p.Gln398_Pro752delinsAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711038" } ], "type": "nucleotide" }