{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10588727", "communityStandardTitle": [ "NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260265[alleleid]", "alleleId": 260265, "preferredName": "NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265449", "RCV": [ "RCV000255422", "RCV001205763" ], "variationId": 265449 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38565226G>A?assembly=hg19", "id": "chr22:g.38565226G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38169219G>A?assembly=hg38", "id": "chr22:g.38169219G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039552", "rs": 886039552 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38565226-G-A?dataset=gnomad_r2_1", "id": "22-38565226-G-A", "variant": "22:38565226 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38169219-G-A?dataset=gnomad_r3", "id": "22-38169219-G-A", "variant": "22:38169219 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38169219-G-A?dataset=gnomad_r4", "id": "22-38169219-G-A", "variant": "22:38169219 G / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 38169219, "referenceAllele": "G", "start": 38169218 } ], "hgvs": [ "NC_000022.11:g.38169219G>A", "CM000684.2:g.38169219G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 38565226, "referenceAllele": "G", "start": 38565225 } ], "hgvs": [ "NC_000022.10:g.38565226G>A", "CM000684.1:g.38565226G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 36895172, "referenceAllele": "G", "start": 36895171 } ], "hgvs": [ "NC_000022.9:g.36895172G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 41472, "referenceAllele": "C", "start": 41471 } ], "hgvs": [ "NG_007094.2:g.41472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000475" }, { "coordinates": [ { "allele": "T", "end": 50560, "referenceAllele": "C", "start": 50559 } ], "hgvs": [ "NG_007094.3:g.50560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733306" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.8:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg70Ter", "hgvsWellDefined": "ENSP00000333142.3:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747235", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.208C>T" }, "RefSeq": { "hgvs": "NM_003560.4:c.208C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg70Ter" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg70Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000436218.6:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000401242.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000401242.1:p.Arg70_Ala151delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerSerLeuGluGlyThrGlnTrpLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755604" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000655142.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499715.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499715.1:p.Arg70_Glu317delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnValCysGlyAspAspHisGlnHisGlyGlnGlnProAspProGlnGlnArgProProLeuArgSerGlnProProProLeuGlyGlnGluArgArgAspGlyProHisAlaAlaGluThrGlyLeuGlnArgGluGlnHisGlnLeuArgGlyGluHisGlyProAlaArgGlyGlyAspAlaGlnProLeuArgLeuCysHisSerAlaAlaAspProArgGlyGlnArgGlyCysProArgArgAlaArgGlnHisProAlaAlaProGlyHisValGluArgGlnArgGlyAspAspGlnGlyProHisArgValArgSerArgSerGlyHisProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772487" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000660610.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499555.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499555.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772698" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000663895.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499712.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499712.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772835" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000664587.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499394.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499394.1:p.Arg70_Pro760delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgProCysProAlaLeuCysLeuThrGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772864" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000665987.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499423.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499423.1:p.Arg70_Gln74delinsSerHisAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772926" }, { "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000667521.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499665.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499665.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772984" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668208.1:n.338C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773012" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668499.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499626.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499626.1:p.Arg71_Thr99delinsLeuGlySerSerProCysValLeuSerProMetArgLeuLeuLeuValLeuLeuValCysProSerSerProValThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773025" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668949.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499711.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000499711.1:p.Arg70_Pro820delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysAlaAlaGluThrValArgLeuSerAspThrSerGlnSerAsnSerProIleAlaCysGlyTrpGlyAlaTrpAspProGluTrpGluAlaSerProLysIleIleGlnGlnIleGlySerArgAlaCysSerGluAlaAsnLysArgGlySerGlyArgAlaGlnArgLeuThrProValIleProAlaLeuTrpGluAlaGluGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773045" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000673413.1:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000500600.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000500600.1:p.Arg71_Thr99delinsLeuGlySerSerProCysValLeuSerProMetArgLeuLeuLeuValLeuLeuValCysProSerSerProValThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773671" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.7:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg70Ter", "hgvsWellDefined": "ENSP00000333142.3:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259571" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000335539.7:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000335149.3:p.Arg70Ter", "hgvsWellDefined": "ENSP00000335149.3:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260146" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000402064.5:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000386100.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000386100.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279399" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000417303.6:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000404974.2:p.Arg70Ter", "hgvsWellDefined": "ENSP00000404974.2:p.Arg71_Thr99delinsLeuGlySerSerProCysValLeuSerProMetArgLeuLeuLeuValLeuLeuValCysProSerSerProValThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284859" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000420435.5:n.299C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286312" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000426674.1:n.373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS289337" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000430886.5:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000395464.1:p.Arg70Cys", "hgvsWellDefined": "ENSP00000395464.1:p.Arg70Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS291366" }, { "coordinates": [ { "allele": "T", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000435484.5:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000413597.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000413597.1:p.Arg71_Thr99delinsLeuGlySerSerProCysValLeuSerProMetArgLeuLeuLeuValLeuLeuValCysProSerSerProValThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293543" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000436218.5:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000401242.1:p.Arg70Ter", "hgvsWellDefined": "ENSP00000401242.1:p.Arg70_Ala151delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerSerLeuGluGlyThrGlnTrpLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293864" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000447598.6:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000393361.2:p.Arg70Ter", "hgvsWellDefined": "ENSP00000393361.2:p.Arg71_Thr99delinsLeuGlySerSerProCysValLeuSerProMetArgLeuLeuLeuValLeuLeuValCysProSerSerProValThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299324" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000455341.2:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000393761.2:p.Arg70Ter", "hgvsWellDefined": "ENSP00000393761.2:p.Arg70_Ala80del" }, "referenceSequence": "http://reg.genome.network/refseq/RS303005" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000471636.5:n.284C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313783" }, { "@id": "http://reg.genome.network/allele/PA2825265628", "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.1:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg70Ter", "hgvsWellDefined": "NP_001004426.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007462" }, { "@id": "http://reg.genome.network/allele/PA2826244256", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.1:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg70Ter", "hgvsWellDefined": "NP_001186491.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017130" }, { "@id": "http://reg.genome.network/allele/PA645491965", "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg70Ter", "hgvsWellDefined": "NP_003551.2:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028794" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261821.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063212" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261822.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063213" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261766.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261823.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261823.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063214" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261771.3:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261828.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261828.1:p.Arg70_Gly467delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGlySerHisProSerGlnAlaGlyTrpTrpAlaTrpGlyAlaAlaSerAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063215" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg70Ter", "hgvsWellDefined": "XP_006724395.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075479" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530422.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011528724.1:p.Arg70Ter", "hgvsWellDefined": "XP_011528724.1:p.Arg70_Pro771delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleArgValArgSerAlaHisGlnValProGlyLeuTrpGluLeuIleSerThrHisHisGluIleGluPheSerGlnProProGlnAlaValProIleAlaArgArgThrArgArgAlaAlaHisProCysThrTrpProAlaAlaArgValMetGlyArgSerTrpTrpSerTrpCysSerThrAlaThrLeuArgTrpMetSerProThrThrArgGluArgProSerSerIleMetLeuSerArgValThrIleLeuArgCysCysArgCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097479" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530423.1:c.-458C>T" ], "proteinEffect": { "hgvs": "XP_011528725.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097480" }, { "coordinates": [ { "allele": "T", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530424.1:c.-584C>T" ], "proteinEffect": { "hgvs": "XP_011528726.1:n.-584C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097481" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg70Ter", "hgvsWellDefined": "XP_011528728.1:p.Arg70_Leu593delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097483" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530427.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011528729.1:p.Arg70Ter", "hgvsWellDefined": "XP_011528729.1:p.Arg70_Gly432delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleArgValArgSerAlaHisGlnValProGlyLeuTrpGluLeuIleSerThrHisHisGluIleGluPheSerGlnProProGlnAlaValProIleAlaArgArgThrArgArgAlaAlaHisProCysThrTrpProAlaAlaArgValMetGlyArgSerTrpTrpSerTrpCysSerThrAlaThrLeuArgTrpMetSerProThrThrArgGluArgProSerSerIleMetLeuSerArgValThrIleLeuArgCysCysArgCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGlySerHisProSerGlnAlaGlyTrpTrpAlaTrpGlyAlaAlaSerAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097484" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530428.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011528730.1:p.Arg70Ter", "hgvsWellDefined": "XP_011528730.1:p.Arg70_Leu384delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerAlaGlyLysSerGlyProLysLysArgLysValThrArgProGluProThrValProGlyGlyGlnCysValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097485" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116743" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244392.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116744" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430411.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118692" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430412.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118693" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937937.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132696" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132697" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132698" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.1:n.316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132699" }, { "@id": "http://reg.genome.network/allele/PA2825265628", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg70Ter", "hgvsWellDefined": "NP_001004426.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510928" }, { "@id": "http://reg.genome.network/allele/PA2826244256", "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg70Ter", "hgvsWellDefined": "NP_001186491.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511837" }, { "@id": "http://reg.genome.network/allele/PA2827515489", "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.1:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336793.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518982" }, { "@id": "http://reg.genome.network/allele/PA2827516142", "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.1:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336794.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518983" }, { "@id": "http://reg.genome.network/allele/PA2827516759", "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.1:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336795.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518984" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.1:c.-458C>T" ], "proteinEffect": { "hgvs": "NP_001336796.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS518985" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.1:c.-283C>T" ], "proteinEffect": { "hgvs": "NP_001336797.1:n.-283C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS518986" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.1:c.-458C>T" ], "proteinEffect": { "hgvs": "NP_001336798.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS518987" }, { "@id": "http://reg.genome.network/allele/PA645491965", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.3:c.208C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg70Ter", "hgvsWellDefined": "NP_003551.2:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525111" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.3:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261821.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535363" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg70Ter", "hgvsWellDefined": "XP_005261822.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535364" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.4:c.208C>T" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg70Ter", "hgvsWellDefined": "XP_006724395.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540956" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.3:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg70Ter", "hgvsWellDefined": "XP_011528728.1:p.Arg70_Leu593delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549971" }, { "coordinates": [ { "allele": "T", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028983.1:c.-584C>T" ], "proteinEffect": { "hgvs": "XP_016884472.1:n.-584C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578612" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028986.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_016884475.1:p.Arg70Ter", "hgvsWellDefined": "XP_016884475.1:p.Arg70_Leu539delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValLeuLeuTrpGlyProCysTrpSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578613" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028987.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_016884476.1:p.Arg70Ter", "hgvsWellDefined": "XP_016884476.1:p.Arg70_Pro499delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGlySerHisProSerGlnAlaGlyTrpTrpAlaTrpGlyAlaAlaSerAspGlyThrThrGlySerHisAlaHisLeuThrGlyProGluAlaSerValHisProGlyLeuHisGluGlyArgGluAlaAspMetGlnAsnLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578614" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028988.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_016884477.1:p.Arg70Ter", "hgvsWellDefined": "XP_016884477.1:p.Arg70_Thr479delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrCysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578615" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452280.1:c.-458C>T" ], "proteinEffect": { "hgvs": "XP_024308048.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585777" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452281.1:c.-453C>T" ], "proteinEffect": { "hgvs": "XP_024308049.1:n.-453C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585778" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452283.1:c.-283C>T" ], "proteinEffect": { "hgvs": "XP_024308051.1:n.-283C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585780" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452284.1:c.-458C>T" ], "proteinEffect": { "hgvs": "XP_024308052.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585781" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452285.1:c.-453C>T" ], "proteinEffect": { "hgvs": "XP_024308053.1:n.-453C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585782" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755325.2:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601102" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755327.2:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601103" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755328.2:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601104" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.3:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606091" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.3:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611758" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.3:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611759" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.3:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611760" }, { "@id": "http://reg.genome.network/allele/PA2826244256", "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.3:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg70Ter", "hgvsWellDefined": "NP_001186491.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679576" }, { "@id": "http://reg.genome.network/allele/PA2827515489", "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336793.1:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688118" }, { "@id": "http://reg.genome.network/allele/PA2827516142", "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336794.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688119" }, { "@id": "http://reg.genome.network/allele/PA2827516759", "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.2:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg70Ter", "hgvsWellDefined": "NP_001336795.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688120" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.2:c.-458C>T" ], "proteinEffect": { "hgvs": "NP_001336796.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688121" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.2:c.-283C>T" ], "proteinEffect": { "hgvs": "NP_001336797.1:n.-283C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688122" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.2:c.-458C>T" ], "proteinEffect": { "hgvs": "NP_001336798.1:n.-458C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688123" }, { "@id": "http://reg.genome.network/allele/PA645491965", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.4:c.208C>T" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg70Ter", "hgvsWellDefined": "NP_003551.2:p.Arg70_Pro806delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgLeuValThrArgLysAlaIleLeuThrLeuLeuArgThrValGlyAlaGluTyrCysPheProProIleHisGlyValProAlaGluGlnGlySerAlaAlaProHisHisProPheSerLeuGluArgAlaGlnProProProIleSerLeuAsnAsnLeuGluLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.208C>T" }, "RefSeq": { "hgvs": "NM_003560.4:c.208C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg70Ter" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg70Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825265628", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.3:c.208C>T" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg70Ter", "hgvsWellDefined": "NP_001004426.1:p.Arg70_Pro752delinsLeuPheGlnLeuGluLeuGluAlaAspAlaLeuValAsnPheHisGlnTyrSerSerGlnLeuLeuProPheTyrGluSerSerProGlnValLeuHisThrGluValLeuGlnHisLeuThrAspLeuIleArgAsnHisProSerTrpSerValAlaHisLeuAlaValGluLeuGlyIleArgGluCysPheHisHisSerArgIleIleSerCysAlaAsnCysAlaGluAsnGluGluGlyCysThrProLeuHisLeuAlaCysArgLysGlyAspGlyGluIleLeuValGluLeuValGlnTyrCysHisThrGlnMetAspValThrAspTyrLysGlyGluThrValPheHisTyrAlaValGlnGlyAspAsnSerGlnValLeuGlnLeuLeuGlyArgAsnAlaValAlaGlyLeuAsnGlnValAsnAsnGlnGlyLeuThrProLeuHisLeuAlaCysGlnLeuGlyLysGlnGluMetValArgValLeuLeuLeuCysAsnAlaArgCysAsnIleMetGlyProAsnGlyTyrProIleHisSerAlaMetLysPheSerGlnLysGlyCysAlaGluMetIleIleSerMetAspSerSerGlnIleHisSerLysAspProArgTyrGlyAlaSerProLeuHisTrpAlaLysAsnAlaGluMetAlaArgMetLeuLeuLysArgGlyCysAsnValAsnSerThrSerSerAlaGlyAsnThrAlaLeuHisValAlaValMetArgAsnArgPheAspCysAlaIleValLeuLeuThrHisGlyAlaAsnAlaAspAlaArgGlyGluHisGlyAsnThrProLeuHisLeuAlaMetSerLysAspAsnValGluMetIleLysAlaLeuIleValPheGlyAlaGluValAspThrProAsnAspPheGlyGluThrProThrPheLeuAlaSerLysIleGlyArgGlnLeuGlnAspLeuMetHisIleSerArgAlaArgLysProAlaPheIleLeuGlySerMetArgAspGluLysArgThrHisAspHisLeuLeuCysLeuAspGlyGlyGlyValLysGlyLeuIleIleIleGlnLeuLeuIleAlaIleGluLysAlaSerGlyValAlaThrLysAspLeuPheAspTrpValAlaGlyThrSerThrGlyGlyIleLeuAlaLeuAlaIleLeuHisSerLysSerMetAlaTyrMetArgGlyMetTyrPheArgMetLysAspGluValPheArgGlySerArgProTyrGluSerGlyProLeuGluGluPheLeuLysArgGluPheGlyGluHisThrLysMetThrAspValArgLysProLysValMetLeuThrGlyThrLeuSerAspArgGlnProAlaGluLeuHisLeuPheArgAsnTyrAspAlaProGluThrValArgGluProArgPheAsnGlnAsnValAsnLeuArgProProAlaGlnProSerAspGlnLeuValTrpArgAlaAlaArgSerSerGlyAlaAlaProThrTyrPheArgProAsnGlyArgPheLeuAspGlyGlyLeuLeuAlaAsnAsnProThrLeuAspAlaMetThrGluIleHisGluTyrAsnGlnAspLeuIleArgLysGlyGlnAlaAsnLysValLysLysLeuSerIleValValSerLeuGlyThrGlyArgSerProGlnValProValThrCysValAspValPheArgProSerAsnProTrpGluLeuAlaLysThrValPheGlyAlaLysGluLeuGlyLysMetValValAspCysCysThrAspProAspGlyArgAlaValAspArgAlaArgAlaTrpCysGluMetValGlyIleGlnTyrPheArgLeuAsnProGlnLeuGlyThrAspIleMetLeuAspGluValSerAspThrValLeuValAsnAlaLeuTrpGluThrGluValTyrIleTyrGluHisArgGluGluPheGlnLysLeuIleGlnLeuLeuLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711038" } ], "type": "nucleotide" }