{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA210307", "communityStandardTitle": [ "NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=194679", "active": true, "id": "COSM194679" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214262[alleleid]", "alleleId": 214262, "preferredName": "NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217646", "RCV": [ "RCV000201690", "RCV000520785" ], "variationId": 217646 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-68024218-C-T", "id": "8-68024218-C-T", "variant": "8:68024218 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.68024218C>T?assembly=hg19", "id": "chr8:g.68024218C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.67111983C>T?assembly=hg38", "id": "chr8:g.67111983C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374703898", "rs": 374703898 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-68024218-C-T?dataset=gnomad_r2_1", "id": "8-68024218-C-T", "variant": "8:68024218 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67111983-C-T?dataset=gnomad_r4", "id": "8-67111983-C-T", "variant": "8:67111983 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 67111983, "referenceAllele": "C", "start": 67111982 } ], "hgvs": [ "NC_000008.11:g.67111983C>T", "CM000670.2:g.67111983C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68024218, "referenceAllele": "C", "start": 68024217 } ], "hgvs": [ "NC_000008.10:g.68024218C>T", "CM000670.1:g.68024218C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68186772, "referenceAllele": "C", "start": 68186771 } ], "hgvs": [ "NC_000008.9:g.68186772C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 52616, "referenceAllele": "C", "start": 52615 } ], "hgvs": [ "NG_034100.1:g.52616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005742" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.11:c.1213C>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.6:p.Arg405Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742299" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "C", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000674993.1:c.1237C>T" ], "proteinEffect": { "hgvs": "ENSP00000502454.1:p.Arg413Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774872" }, { "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "C", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675306.2:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000502421.1:p.Arg342Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775143" }, { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675820.1:c.*896C>T" ], "proteinEffect": { "hgvs": "ENSP00000501959.1:n.*896C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775590" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675869.1:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000502747.1:p.Arg369Ter", "hgvsWellDefined": "ENSP00000502747.1:p.Arg369_Gly1161delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775633" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "C", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675955.1:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000501676.1:p.Arg342Ter", "hgvsWellDefined": "ENSP00000501676.1:p.Arg342_Gly1199delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775705" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676113.1:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000501645.1:p.Arg369Ter", "hgvsWellDefined": "ENSP00000501645.1:p.Arg369_Gly1212delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775842" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676317.1:c.1132C>T" ], "proteinEffect": { "hgvs": "ENSP00000502047.1:p.Arg378Ter", "hgvsWellDefined": "ENSP00000502047.1:p.Arg378_Gly1221delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776014" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676471.1:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000503711.1:p.Arg345Ter", "hgvsWellDefined": "ENSP00000503711.1:p.Arg345_Gly1137delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776150" }, { "coordinates": [ { "allele": "T", "end": 4031, "referenceAllele": "C", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676534.1:n.4031C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776212" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676567.1:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000503427.1:p.Arg309Ter", "hgvsWellDefined": "ENSP00000503427.1:p.Arg309_Arg336delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776245" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676573.1:c.951-6265C>T" ], "proteinEffect": { "hgvs": "ENSP00000504532.1:n.951-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776251" }, { "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676605.1:c.1255C>T" ], "proteinEffect": { "hgvs": "ENSP00000503605.1:p.Arg419Ter", "hgvsWellDefined": "ENSP00000503605.1:p.Arg419_Gly1262delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776283" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676695.1:c.721C>T" ], "proteinEffect": { "hgvs": "ENSP00000503292.1:p.Arg241Ter", "hgvsWellDefined": "ENSP00000503292.1:p.Arg241_Leu436delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValValSerProCysHisProGlyTrpSerThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776371" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676697.1:n.1866C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776373" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676847.1:c.1126C>T" ], "proteinEffect": { "hgvs": "ENSP00000503336.1:p.Arg376Ter", "hgvsWellDefined": "ENSP00000503336.1:p.Arg376_Gly1219delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776519" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676858.1:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000502925.1:p.Arg340Ter", "hgvsWellDefined": "ENSP00000502925.1:p.Arg340_Glu669delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776530" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676882.1:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000504342.1:p.Arg345Ter", "hgvsWellDefined": "ENSP00000504342.1:p.Arg345_Gly1188delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776553" }, { "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677009.1:c.1132C>T" ], "proteinEffect": { "hgvs": "ENSP00000503297.1:p.Arg378Ter", "hgvsWellDefined": "ENSP00000503297.1:p.Arg378_Ser1059delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetMetMetArgValHisTrpLeuThrLeuMetThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776678" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677052.1:n.635C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776720" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677070.1:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000503014.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000503014.1:p.Arg272Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776738" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677256.1:c.*866C>T" ], "proteinEffect": { "hgvs": "ENSP00000504102.1:n.*866C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776919" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677430.1:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000504177.1:p.Arg342Ter", "hgvsWellDefined": "ENSP00000504177.1:p.Arg342_Lys773delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluAlaLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777092" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677455.1:n.1173C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777117" }, { "coordinates": [ { "allele": "T", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677473.1:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000503534.1:p.Arg345Ter", "hgvsWellDefined": "ENSP00000503534.1:p.Arg345_Ile587delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777135" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677592.1:c.1114C>T" ], "proteinEffect": { "hgvs": "ENSP00000504516.1:p.Arg372Ter", "hgvsWellDefined": "ENSP00000504516.1:p.Arg372_Gly1215delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777250" }, { "coordinates": [ { "allele": "T", "end": 1029, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1029, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677619.1:c.843-6265C>T" ], "proteinEffect": { "hgvs": "ENSP00000504522.1:n.843-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777277" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677836.1:c.721C>T" ], "proteinEffect": { "hgvs": "ENSP00000504345.1:p.Arg241Ter", "hgvsWellDefined": "ENSP00000504345.1:p.Arg241_Cys416delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrCysLysLeuSerIleGlyTrpPheArgAsnAspGlyArgThrAlaCysSerLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777488" }, { "coordinates": [ { "allele": "T", "end": 923, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 923, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677845.1:c.843-6265C>T" ], "proteinEffect": { 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"ENSP00000504757.1:p.Arg241_Asn517delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777507" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678017.1:c.151C>T" ], "proteinEffect": { "hgvs": "ENSP00000504394.1:p.Arg51Ter", "hgvsWellDefined": "ENSP00000504394.1:p.Arg51_Gly843delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777667" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678138.1:n.1391C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777788" }, { "coordinates": [ { "allele": "T", "end": 1136, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1136, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678156.1:n.1137-6265C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777806" }, { "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678204.1:c.*807C>T" ], "proteinEffect": { "hgvs": "ENSP00000504782.1:n.*807C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777853" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678216.1:n.739C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777865" }, { "coordinates": [ { "allele": "T", "end": 1062, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1062, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678318.1:c.1032-6265C>T" ], "proteinEffect": { "hgvs": "ENSP00000503690.1:n.1032-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777966" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678362.1:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000504317.1:p.Arg342Ter", "hgvsWellDefined": "ENSP00000504317.1:p.Arg342_Arg369delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778009" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678444.1:c.721C>T" ], "proteinEffect": { "hgvs": "ENSP00000503879.1:p.Arg241Ter", "hgvsWellDefined": "ENSP00000503879.1:p.Arg241_Thr318delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluAsnThrIleThrGluMetAlaIleArgGluValAlaArgCysProSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778090" }, { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678542.1:c.1213C>T" ], "proteinEffect": { "hgvs": "ENSP00000503878.1:p.Arg405Ter", "hgvsWellDefined": "ENSP00000503878.1:p.Arg405_Gly1262delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778183" }, { "coordinates": [ { "allele": "T", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678553.1:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000503747.1:p.Arg345Ter", "hgvsWellDefined": "ENSP00000503747.1:p.Arg345Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778194" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678616.1:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000504733.1:p.Arg369Ter", "hgvsWellDefined": "ENSP00000504733.1:p.Arg369_Gly1226delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778257", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.1105C>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Arg369Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Arg369Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678645.1:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000504031.1:p.Arg342Ter", "hgvsWellDefined": "ENSP00000504031.1:p.Arg342_Gly1185delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778285" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678728.1:c.1132C>T" ], "proteinEffect": { "hgvs": "ENSP00000504830.1:p.Arg378Ter", "hgvsWellDefined": "ENSP00000504830.1:p.Arg378_Arg405delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778367" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678744.1:c.*704C>T" ], "proteinEffect": { "hgvs": "ENSP00000503495.1:n.*704C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778383" }, { "coordinates": [ { "allele": "T", "end": 947, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 947, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678747.1:c.924-6265C>T" ], "proteinEffect": { "hgvs": "ENSP00000503390.1:n.924-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778386" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678807.1:n.330C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778445" }, { "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678821.1:n.2418C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778459" }, { "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "C", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679112.1:c.*1046C>T" ], "proteinEffect": { "hgvs": "ENSP00000503739.1:n.*1046C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778747" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679226.1:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000503601.1:p.Arg342Ter", "hgvsWellDefined": "ENSP00000503601.1:p.Arg342_Gly1097delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778860" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.9:c.1132C>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.5:p.Arg378Ter", "hgvsWellDefined": "ENSP00000262210.5:p.Arg378_Gly1221delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250958" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519163.6:c.1129C>T" ], "proteinEffect": { "hgvs": "ENSP00000428694.1:p.Arg377Ter", "hgvsWellDefined": "ENSP00000428694.1:p.Arg377_Arg404delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346458" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519668.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000430092.1:p.Arg84Ter", "hgvsWellDefined": "ENSP00000430092.1:p.Arg84_Gly876delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346874" }, { "@id": "http://reg.genome.network/allele/PA916017753", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Arg84Ter", "hgvsWellDefined": "NP_001278268.1:p.Arg84_Gly876delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024195" }, { "@id": "http://reg.genome.network/allele/PA210308", "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_024790.6:c.1132C>T" ], "proteinEffect": { "hgvs": "NP_079066.5:p.Arg378Ter", "hgvsWellDefined": "NP_079066.5:p.Arg378_Gly1221delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038021" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.3:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg459Ter", "hgvsWellDefined": "XP_005251362.2:p.Arg459_Gly1302delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059492" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.2:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg459Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg459_Gly1251delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071697" }, { "coordinates": [ { "allele": "T", "end": 1465, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1465, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.2:c.1194-6265C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:n.1194-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071698" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.1:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg459Ter", "hgvsWellDefined": "XP_011515900.1:p.Arg459_Gly1316delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084786" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.1:c.1351C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg451Ter", "hgvsWellDefined": "XP_011515901.1:p.Arg451_Gly1308delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084787" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.1:c.1351C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg451Ter", "hgvsWellDefined": "XP_011515902.1:p.Arg451_Gly1294delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084788" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.1:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg424Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg424_Gly1281delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084789" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.1:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg424Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg424_Gly1267delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084790" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg377Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084791" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517604.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011515906.1:p.Arg377Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084792" }, { "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517605.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011515907.1:p.Arg377Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084793" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517606.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011515908.1:p.Arg369Ter", "hgvsWellDefined": "XP_011515908.1:p.Arg369_Gly1226delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084794" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg369Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg369_Gly1226delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084795" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517608.1:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_011515910.1:p.Arg342Ter", "hgvsWellDefined": "XP_011515910.1:p.Arg342_Gly1199delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084796" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg84Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg84_Gly941delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084797" }, { "@id": "http://reg.genome.network/allele/PA2828077716", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.1:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg342Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg342_Gly1199delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523185" }, { "@id": "http://reg.genome.network/allele/PA2828078431", "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg369Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg369_Gly1161delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523186" }, { "@id": "http://reg.genome.network/allele/PA2828079100", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.1:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg342Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg342_Gly1134delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523187" }, { "@id": "http://reg.genome.network/allele/PA2828157315", "coordinates": [ { "allele": "T", "end": 1220, "referenceAllele": "C", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364869.1:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_001351798.1:p.Arg405Ter", "hgvsWellDefined": "NP_001351798.1:p.Arg405_Gly1248delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523965" }, { "@id": "http://reg.genome.network/allele/PA2828157786", "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "C", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364870.1:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001351799.1:p.Arg345Ter", "hgvsWellDefined": "NP_001351799.1:p.Arg345_Gly1188delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523966" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.4:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg459Ter", "hgvsWellDefined": "XP_005251362.2:p.Arg459_Gly1302delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533577" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.3:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg459Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg459_Gly1251delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539186" }, { "coordinates": [ { "allele": "T", "end": 1465, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1465, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.3:c.1194-6265C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:n.1194-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539187" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.2:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg459Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS544596" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.2:c.1351C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg451Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS544597" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.2:c.1351C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg451Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS544598" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.2:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg424Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg424_Gly1281delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544599" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.2:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg424Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg424_Gly1267delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544600" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg377Ter", "hgvsWellDefined": "XP_011515905.1:p.Arg377_Gly1234delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544601" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.2:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg369Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg369_Gly1226delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544602" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg84Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg84_Gly941delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544603" }, { "coordinates": [ { "allele": "T", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013847.2:c.1276C>T" ], "proteinEffect": { "hgvs": "XP_016869336.1:p.Arg426Ter", "hgvsWellDefined": "XP_016869336.1:p.Arg426_Gly1269delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566993" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013848.2:c.1252C>T" ], "proteinEffect": { "hgvs": "XP_016869337.1:p.Arg418Ter", "hgvsWellDefined": "XP_016869337.1:p.Arg418_Gly1261delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566994" }, { "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013849.2:c.1171C>T" ], "proteinEffect": { "hgvs": "XP_016869338.1:p.Arg391Ter", "hgvsWellDefined": "XP_016869338.1:p.Arg391_Gly1248delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566995" }, { "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013850.2:c.1171C>T" ], "proteinEffect": { "hgvs": "XP_016869339.1:p.Arg391Ter", "hgvsWellDefined": "XP_016869339.1:p.Arg391_Gly1234delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566996" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013851.2:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_016869340.1:p.Arg342Ter", "hgvsWellDefined": "XP_016869340.1:p.Arg342_Gly1185delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566997" }, { "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013852.2:c.1171C>T" ], "proteinEffect": { "hgvs": "XP_016869341.1:p.Arg391Ter", "hgvsWellDefined": "XP_016869341.1:p.Arg391_Gly1183delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580867" }, { "coordinates": [ { "allele": "T", "end": 1124, "endIntronDirection": "-", "endIntronOffset": 6264, "referenceAllele": "C", "start": 1124, "startIntronDirection": "-", "startIntronOffset": 6265 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447282.1:c.924-6265C>T" ], "proteinEffect": { "hgvs": "XP_024303050.1:n.924-6265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580868" }, { "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447283.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_024303051.1:p.Arg84Ter", "hgvsWellDefined": "XP_024303051.1:p.Arg84_Gly927delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580869" }, { "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447284.1:c.-199C>T" ], "proteinEffect": { "hgvs": "XP_024303052.1:n.-199C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580870" }, { "@id": "http://reg.genome.network/allele/PA2828077716", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.2:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg342Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg342_Gly1199delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690613" }, { "@id": "http://reg.genome.network/allele/PA2828078431", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.2:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg369Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg369_Gly1161delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690614" }, { "@id": "http://reg.genome.network/allele/PA2828079100", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.2:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg342Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg342_Gly1134delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690615" }, { "@id": "http://reg.genome.network/allele/PA916017753", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.2:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Arg84Ter", "hgvsWellDefined": "NP_001278268.1:p.Arg84_Gly876delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716685" }, { "@id": "http://reg.genome.network/allele/PA2828892411", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001382391.1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001369320.1:p.Arg369Ter", "hgvsWellDefined": "NP_001369320.1:p.Arg369_Gly1226delinsGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.1105C>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Arg369Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Arg369Ter" } } } } ], "type": "nucleotide" }