{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367649708", "communityStandardTitle": [ "NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2172429[alleleid]", "alleleId": 2172429, "preferredName": "NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2117122", "RCV": [ "RCV003039047" ], "variationId": 2117122 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65444506G>A?assembly=hg19", "id": "chr7:g.65444506G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65979519G>A?assembly=hg38", "id": "chr7:g.65979519G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2484838592", "rs": 2484838592 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-65979519-G-A?dataset=gnomad_r4", "id": "7-65979519-G-A", "variant": "7:65979519 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65979519, "referenceAllele": "G", "start": 65979518 } ], "hgvs": [ "NC_000007.14:g.65979519G>A", "CM000669.2:g.65979519G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65444506, "referenceAllele": "G", "start": 65444505 } ], "hgvs": [ "NC_000007.13:g.65444506G>A", "CM000669.1:g.65444506G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65081941, "referenceAllele": "G", "start": 65081940 } ], "hgvs": [ "NC_000007.12:g.65081941G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 7796, "referenceAllele": "C", "start": 7795 } ], "hgvs": [ "NG_016197.1:g.7796C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003003" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.9:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Gln202Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Gln202_Thr651delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745155", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.604C>T" }, "RefSeq": { "hgvs": "NM_000181.4:c.604C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Gln202Ter" }, "RefSeq": { "hgvs": "NP_000172.2:p.Gln202Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.8:c.604C>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Gln202Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Gln202_Thr651delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255527" }, { "coordinates": [ { "allele": "T", "end": 502, "endIntronDirection": "+", "endIntronOffset": 315, "referenceAllele": "C", "start": 502, "startIntronDirection": "+", "startIntronOffset": 314 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000421103.5:c.474+315C>T" ], "proteinEffect": { "hgvs": "ENSP00000391390.1:n.474+315C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS286638" }, { "coordinates": [ { "allele": "T", "end": 428, "endIntronDirection": "+", "endIntronOffset": 705, "referenceAllele": "C", "start": 428, "startIntronDirection": "+", "startIntronOffset": 704 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000430730.5:c.396+705C>T" ], "proteinEffect": { "hgvs": "ENSP00000411859.1:n.396+705C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS291283" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000446111.1:c.419C>T" ], "proteinEffect": { "hgvs": "ENSP00000416793.1:p.Pro140Leu", "hgvsWellDefined": "ENSP00000416793.1:p.Pro140Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS298587" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000447929.5:c.419C>T" ], "proteinEffect": { "hgvs": "ENSP00000411262.1:p.Pro140Leu", "hgvsWellDefined": "ENSP00000411262.1:p.Pro140Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS299491" }, { "coordinates": [ { "allele": "T", "end": 115, "endIntronDirection": "+", "endIntronOffset": 2455, "referenceAllele": "C", "start": 115, "startIntronDirection": "+", "startIntronOffset": 2454 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000475316.5:n.115+2455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316626" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000476486.5:n.408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317519" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000478118.1:n.530C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318791" }, { "coordinates": [ { "allele": "T", "end": 188, "endIntronDirection": "+", "endIntronOffset": 705, "referenceAllele": "C", "start": 188, "startIntronDirection": "+", "startIntronOffset": 704 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000479038.1:n.188+705C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319507" }, { "@id": "http://reg.genome.network/allele/PA2580106599", "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.3:c.604C>T" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Gln202Ter", "hgvsWellDefined": "NP_000172.2:p.Gln202_Thr651delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006243" }, { "coordinates": [ { "allele": "T", "end": 605, "endIntronDirection": "+", "endIntronOffset": 315, "referenceAllele": "C", "start": 605, "startIntronDirection": "+", "startIntronOffset": 314 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.1:c.474+315C>T" ], "proteinEffect": { "hgvs": "NP_001271219.1:n.474+315C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022544" }, { "@id": "http://reg.genome.network/allele/PA2826822167", "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.1:c.34C>T" ], "proteinEffect": { "hgvs": "NP_001280033.1:p.Gln12Ter", "hgvsWellDefined": "NP_001280033.1:p.Gln12_Thr461delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024484" }, { "coordinates": [ { "allele": "T", "end": 527, "endIntronDirection": "+", "endIntronOffset": 705, "referenceAllele": "C", "start": 527, "startIntronDirection": "+", "startIntronOffset": 704 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.1:c.67+705C>T" ], "proteinEffect": { "hgvs": "NP_001280034.1:n.67+705C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024485" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.1:n.735C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055408" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.3:c.604C>T" ], "proteinEffect": { "hgvs": "XP_005250354.1:p.Gln202Ter", "hgvsWellDefined": "XP_005250354.1:p.Gln202_Thr600delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059136" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516113.1:c.90C>T" ], "proteinEffect": { "hgvs": "XP_011514415.1:p.Ser30=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083316" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516114.1:c.-82C>T" ], "proteinEffect": { "hgvs": "XP_011514416.1:n.-82C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083317" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_927461.1:n.730C>T" ], 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"XP_005250354.1:p.Gln202_Thr600delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" 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"NP_000172.2:p.Gln202_Thr651delinsAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" 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