{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115098", "communityStandardTitle": [ "NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4755501" }, { "active": false, "id": "COSM4755502" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16635[alleleid]", "alleleId": 16635, "preferredName": "NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1596", "RCV": [ "RCV000001663", "RCV000084149", "RCV002262535" ], "variationId": 1596 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-54314063-G-A", "id": "19-54314063-G-A", "variant": "19:54314063 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.54314063G>A?assembly=hg19", "id": "chr19:g.54314063G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.53810809G>A?assembly=hg38", "id": "chr19:g.53810809G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104895564", "rs": 104895564 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-54314063-G-A?dataset=gnomad_r2_1", "id": "19-54314063-G-A", "variant": "19:54314063 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-53810809-G-A?dataset=gnomad_r3", "id": "19-53810809-G-A", "variant": "19:53810809 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-53810809-G-A?dataset=gnomad_r4", "id": "19-53810809-G-A", "variant": "19:53810809 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 53810809, "referenceAllele": "G", "start": 53810808 } ], "hgvs": [ "NC_000019.10:g.53810809G>A", "CM000681.2:g.53810809G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 54314063, "referenceAllele": "G", "start": 54314062 } ], "hgvs": [ "NC_000019.9:g.54314063G>A", "CM000681.1:g.54314063G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 59005875, "referenceAllele": "G", "start": 59005874 } ], "hgvs": [ "NC_000019.8:g.59005875G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 18586, "referenceAllele": "C", "start": 18585 } ], "hgvs": [ "NG_008651.1:g.18586C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001145" }, { "coordinates": [ { "allele": "T", "end": 18586, "referenceAllele": "C", "start": 18585 } ], "hgvs": [ "NG_008651.2:g.18586C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706087" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000391773.7:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000375653.1:p.Arg284Ter", "hgvsWellDefined": "ENSP00000375653.1:p.Arg284_Cys1062delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904589" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000324134.11:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000319377.6:p.Arg284Ter", "hgvsWellDefined": "ENSP00000319377.6:p.Arg284_Cys1061delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746610", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324134.11:c.850C>T" }, "RefSeq": { "hgvs": "NM_144687.4:c.850C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000319377.6:p.Arg284Ter" }, "RefSeq": { "hgvs": "NP_653288.1:p.Arg284Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000391773.6:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000375653.1:p.Arg284Ter", "hgvsWellDefined": "ENSP00000375653.1:p.Arg284_Cys1062delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752931" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000324134.10:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000319377.6:p.Arg284Ter", "hgvsWellDefined": "ENSP00000319377.6:p.Arg284_Cys1061delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258303" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000345770.9:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000341428.5:p.Arg284Ter", "hgvsWellDefined": "ENSP00000341428.5:p.Arg284_Cys1006delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262199" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000391772.1:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000375652.1:p.Arg284Ter", "hgvsWellDefined": "ENSP00000375652.1:p.Arg284_Cys892delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274749" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000391773.5:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000375653.1:p.Arg284Ter", "hgvsWellDefined": "ENSP00000375653.1:p.Arg284_Cys1062delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274750" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "ENST00000391775.7:c.850C>T" ], "proteinEffect": { "hgvs": "ENSP00000375655.3:p.Arg284Ter", "hgvsWellDefined": "ENSP00000375655.3:p.Arg284_Cys1004delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274751" }, { "@id": "http://reg.genome.network/allele/PA115099", "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "NM_001277126.1:c.850C>T" ], "proteinEffect": { "hgvs": "NP_001264055.1:p.Arg284Ter", "hgvsWellDefined": "NP_001264055.1:p.Arg284_Cys1062delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020969" }, { "@id": "http://reg.genome.network/allele/PA2826573021", "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "NM_001277129.1:c.850C>T" ], "proteinEffect": { "hgvs": "NP_001264058.1:p.Arg284Ter", "hgvsWellDefined": "NP_001264058.1:p.Arg284_Cys1004delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020972" }, { "@id": "http://reg.genome.network/allele/PA115100", "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "NM_144687.3:c.850C>T" ], "proteinEffect": { "hgvs": "NP_653288.1:p.Arg284Ter", "hgvsWellDefined": "NP_653288.1:p.Arg284_Cys1061delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041205" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527478.1:c.682C>T" ], "proteinEffect": { "hgvs": "XP_011525780.1:p.Arg228Ter", "hgvsWellDefined": "XP_011525780.1:p.Arg228_Cys1006delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094572" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527479.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011525781.1:p.Arg284Ter", "hgvsWellDefined": "XP_011525781.1:p.Arg284_Cys1005delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094573" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527480.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011525782.1:p.Arg284Ter", "hgvsWellDefined": "XP_011525782.1:p.Arg284_Cys1005delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094574" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527481.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011525783.1:p.Arg284Ter", "hgvsWellDefined": "XP_011525783.1:p.Arg284_Leu970delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgValGluIleGluSerValProLeuSerAlaThrSerThrGlyLeuGlyThrGlyProSerGlnGlnIleLeuGlnGluGluCysLeuProLeuArgProSerIleLeuSerLeuGlnValGlyHisLeuProAlaGlyLeuCysArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094575" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527482.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011525784.1:p.Arg284Ter", "hgvsWellDefined": "XP_011525784.1:p.Arg284_Cys948delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094576" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_011527483.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011525785.1:p.Arg284Ter", "hgvsWellDefined": "XP_011525785.1:p.Arg284_Cys890delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094577" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027460.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_016882949.1:p.Arg284Ter", "hgvsWellDefined": "XP_016882949.1:p.Arg284_Cys1061delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577404" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027461.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_016882950.1:p.Arg284Ter", "hgvsWellDefined": "XP_016882950.1:p.Arg284_Cys1005delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577405" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027462.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_016882951.1:p.Arg284Ter", "hgvsWellDefined": "XP_016882951.1:p.Arg284_Cys1004delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577406" }, { "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027463.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016882952.1:p.Arg145Ter", "hgvsWellDefined": "XP_016882952.1:p.Arg145_Cys923delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577407" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027464.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016882953.1:p.Arg145Ter", "hgvsWellDefined": "XP_016882953.1:p.Arg145_Cys923delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577408" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027465.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016882954.1:p.Arg145Ter", "hgvsWellDefined": "XP_016882954.1:p.Arg145_Cys923delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577409" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027466.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016882955.1:p.Arg145Ter", "hgvsWellDefined": "XP_016882955.1:p.Arg145_Cys923delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577410" }, { "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "XM_017027467.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016882956.1:p.Arg145Ter", "hgvsWellDefined": "XP_016882956.1:p.Arg145_Cys923delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577411" }, { "@id": "http://reg.genome.network/allele/PA115099", "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "NM_001277126.2:c.850C>T" ], "proteinEffect": { "hgvs": "NP_001264055.1:p.Arg284Ter", "hgvsWellDefined": "NP_001264055.1:p.Arg284_Cys1062delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681354" }, { "@id": "http://reg.genome.network/allele/PA115100", "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN022938", "geneNCBI_id": 91662, "geneSymbol": "NLRP12", "hgvs": [ "NM_144687.4:c.850C>T" ], "proteinEffect": { "hgvs": "NP_653288.1:p.Arg284Ter", "hgvsWellDefined": "NP_653288.1:p.Arg284_Cys1061delinsValProGluArgLeuLeuPheIleIleAspGlyPheAspGluLeuLysProSerPheHisAspProGlnGlyProTrpCysLeuCysTrpGluGluLysArgProThrGluLeuLeuLeuAsnSerLeuIleArgLysLysLeuLeuProGluLeuSerLeuLeuIleThrThrArgProThrAlaLeuGluLysLeuHisArgLeuLeuGluHisProArgHisValGluIleLeuGlyPheSerGluAlaGluArgLysGluTyrPheTyrLysTyrPheHisAsnAlaGluGlnAlaGlyGlnValPheAsnTyrValArgAspAsnGluProLeuPheThrMetCysPheValProLeuValCysTrpValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699928", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324134.11:c.850C>T" }, "RefSeq": { "hgvs": "NM_144687.4:c.850C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000319377.6:p.Arg284Ter" }, "RefSeq": { "hgvs": "NP_653288.1:p.Arg284Ter" } } } } ], "type": "nucleotide" }