{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10606295", "communityStandardTitle": [ "NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273240[alleleid]", "alleleId": 273240, "preferredName": "NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289003", "RCV": [ "RCV000426028", "RCV001859690" ], "variationId": 289003 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.68024266G>T?assembly=hg19", "id": "chr8:g.68024266G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.67112031G>T?assembly=hg38", "id": "chr8:g.67112031G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886044058", "rs": 886044058 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67112031-G-T?dataset=gnomad_r4", "id": "8-67112031-G-T", "variant": "8:67112031 G / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 67112031, "referenceAllele": "G", "start": 67112030 } ], "hgvs": [ "NC_000008.11:g.67112031G>T", "CM000670.2:g.67112031G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68024266, "referenceAllele": "G", "start": 68024265 } ], "hgvs": [ "NC_000008.10:g.68024266G>T", "CM000670.1:g.68024266G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68186820, "referenceAllele": "G", "start": 68186819 } ], "hgvs": [ "NC_000008.9:g.68186820G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 52664, "referenceAllele": "G", "start": 52663 } ], "hgvs": [ "NG_034100.1:g.52664G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005742" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.11:c.1261G>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.6:p.Glu421Ter", "hgvsWellDefined": "ENSP00000262210.6:p.Glu421_Gly1248delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742299" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000674993.1:c.1285G>T" ], "proteinEffect": { "hgvs": "ENSP00000502454.1:p.Glu429Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774872" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675306.2:c.1072G>T" ], "proteinEffect": { "hgvs": "ENSP00000502421.1:p.Glu358Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775143" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675820.1:c.*944G>T" ], "proteinEffect": { "hgvs": "ENSP00000501959.1:n.*944G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775590" }, { "coordinates": [ { "allele": "T", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675869.1:c.1153G>T" ], "proteinEffect": { "hgvs": "ENSP00000502747.1:p.Glu385Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775633" }, { "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675955.1:c.1072G>T" ], "proteinEffect": { "hgvs": "ENSP00000501676.1:p.Glu358Ter", "hgvsWellDefined": "ENSP00000501676.1:p.Glu358_Gly1199delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775705" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676113.1:c.1153G>T" ], "proteinEffect": { "hgvs": "ENSP00000501645.1:p.Glu385Ter", "hgvsWellDefined": "ENSP00000501645.1:p.Glu385_Gly1212delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775842" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676317.1:c.1180G>T" ], "proteinEffect": { "hgvs": "ENSP00000502047.1:p.Glu394Ter", "hgvsWellDefined": "ENSP00000502047.1:p.Glu394_Gly1221delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776014" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "G", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676471.1:c.1081G>T" ], "proteinEffect": { "hgvs": "ENSP00000503711.1:p.Glu361Ter", "hgvsWellDefined": "ENSP00000503711.1:p.Glu361_Gly1137delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776150" }, { "coordinates": [ { "allele": "T", "end": 4079, "referenceAllele": "G", "start": 4078 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676534.1:n.4079G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776212" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676567.1:c.973G>T" ], "proteinEffect": { "hgvs": "ENSP00000503427.1:p.Glu325Ter", "hgvsWellDefined": "ENSP00000503427.1:p.Glu325_Arg336delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776245" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 981, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676573.1:c.951-6217G>T" ], "proteinEffect": { "hgvs": "ENSP00000504532.1:n.951-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776251" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "G", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676605.1:c.1303G>T" ], "proteinEffect": { "hgvs": "ENSP00000503605.1:p.Glu435Ter", "hgvsWellDefined": "ENSP00000503605.1:p.Glu435_Gly1262delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776283" }, { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676695.1:c.769G>T" ], "proteinEffect": { "hgvs": "ENSP00000503292.1:p.Glu257Ter", "hgvsWellDefined": "ENSP00000503292.1:p.Glu257_Leu436delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValValSerProCysHisProGlyTrpSerThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776371" }, { "coordinates": [ { "allele": "T", "end": 1914, "referenceAllele": "G", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676697.1:n.1914G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776373" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676847.1:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000503336.1:p.Glu392Ter", "hgvsWellDefined": "ENSP00000503336.1:p.Glu392_Gly1219delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776519" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "G", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676858.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000502925.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000502925.1:p.Glu356_Glu669delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776530" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "G", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676882.1:c.1081G>T" ], "proteinEffect": { "hgvs": "ENSP00000504342.1:p.Glu361Ter", "hgvsWellDefined": "ENSP00000504342.1:p.Glu361_Gly1188delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776553" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677009.1:c.1180G>T" ], "proteinEffect": { "hgvs": "ENSP00000503297.1:p.Glu394Ter", "hgvsWellDefined": "ENSP00000503297.1:p.Glu394_Ser1059delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetMetMetArgValHisTrpLeuThrLeuMetThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776678" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677052.1:n.683G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776720" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677070.1:c.862G>T" ], "proteinEffect": { "hgvs": "ENSP00000503014.1:p.Glu288Ter", "hgvsWellDefined": "ENSP00000503014.1:p.Glu288Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776738" }, { "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "G", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677256.1:c.*914G>T" ], "proteinEffect": { "hgvs": "ENSP00000504102.1:n.*914G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776919" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677430.1:c.1072G>T" ], "proteinEffect": { "hgvs": "ENSP00000504177.1:p.Glu358Ter", "hgvsWellDefined": "ENSP00000504177.1:p.Glu358_Lys773delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluAlaLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777092" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677455.1:n.1221G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777117" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677473.1:c.1081G>T" ], "proteinEffect": { "hgvs": "ENSP00000503534.1:p.Glu361Ter", "hgvsWellDefined": "ENSP00000503534.1:p.Glu361_Ile587delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777135" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677592.1:c.1162G>T" ], "proteinEffect": { "hgvs": "ENSP00000504516.1:p.Glu388Ter", "hgvsWellDefined": "ENSP00000504516.1:p.Glu388_Gly1215delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS778183" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678553.1:c.1081G>T" ], "proteinEffect": { "hgvs": "ENSP00000503747.1:p.Glu361Ter", "hgvsWellDefined": "ENSP00000503747.1:p.Glu361Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778194" }, { "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678616.1:c.1153G>T" ], "proteinEffect": { "hgvs": "ENSP00000504733.1:p.Glu385Ter", "hgvsWellDefined": "ENSP00000504733.1:p.Glu385_Gly1226delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778257", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.1153G>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.1153G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Glu385Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Glu385Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678645.1:c.1072G>T" ], "proteinEffect": { "hgvs": "ENSP00000504031.1:p.Glu358Ter", "hgvsWellDefined": "ENSP00000504031.1:p.Glu358_Gly1185delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778285" }, { "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "G", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678728.1:c.1180G>T" ], "proteinEffect": { "hgvs": "ENSP00000504830.1:p.Glu394Ter", "hgvsWellDefined": "ENSP00000504830.1:p.Glu394_Arg405delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778367" }, { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678744.1:c.*752G>T" ], "proteinEffect": { "hgvs": "ENSP00000503495.1:n.*752G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778383" }, { "coordinates": [ { "allele": "T", "end": 947, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 947, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678747.1:c.924-6217G>T" ], "proteinEffect": { "hgvs": "ENSP00000503390.1:n.924-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778386" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678807.1:n.378G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778445" }, { "coordinates": [ { "allele": "T", "end": 2466, "referenceAllele": "G", "start": 2465 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678821.1:n.2466G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778459" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "G", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679112.1:c.*1094G>T" ], "proteinEffect": { "hgvs": "ENSP00000503739.1:n.*1094G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778747" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679226.1:c.1072G>T" ], "proteinEffect": { "hgvs": "ENSP00000503601.1:p.Glu358Ter", "hgvsWellDefined": "ENSP00000503601.1:p.Glu358_Gly1097delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778860" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.9:c.1180G>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.5:p.Glu394Ter", "hgvsWellDefined": "ENSP00000262210.5:p.Glu394_Gly1221delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250958" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "G", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519163.6:c.1177G>T" ], "proteinEffect": { "hgvs": "ENSP00000428694.1:p.Glu393Ter", "hgvsWellDefined": "ENSP00000428694.1:p.Glu393_Arg404delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346458" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519668.1:c.298G>T" ], "proteinEffect": { "hgvs": "ENSP00000430092.1:p.Glu100Ter", "hgvsWellDefined": "ENSP00000430092.1:p.Glu100_Gly876delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346874" }, { "@id": "http://reg.genome.network/allele/PA2826794552", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.1:c.298G>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Glu100Ter", "hgvsWellDefined": "NP_001278268.1:p.Glu100_Gly876delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024195" }, { "@id": "http://reg.genome.network/allele/PA645484904", "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_024790.6:c.1180G>T" ], "proteinEffect": { "hgvs": "NP_079066.5:p.Glu394Ter", "hgvsWellDefined": "NP_079066.5:p.Glu394_Gly1221delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038021" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.3:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Glu475Ter", "hgvsWellDefined": "XP_005251362.2:p.Glu475_Gly1302delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059492" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.2:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Glu475Ter", "hgvsWellDefined": "XP_006716537.2:p.Glu475_Gly1251delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071697" }, { "coordinates": [ { "allele": "T", "end": 1465, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1465, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.2:c.1194-6217G>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:n.1194-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071698" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.1:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Glu475Ter", "hgvsWellDefined": "XP_011515900.1:p.Glu475_Gly1316delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084786" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.1:c.1399G>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Glu467Ter", "hgvsWellDefined": "XP_011515901.1:p.Glu467_Gly1308delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084787" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.1:c.1399G>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Glu467Ter", "hgvsWellDefined": "XP_011515902.1:p.Glu467_Gly1294delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084788" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.1:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Glu440Ter", "hgvsWellDefined": "XP_011515903.1:p.Glu440_Gly1281delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084789" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.1:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Glu440Ter", "hgvsWellDefined": "XP_011515904.1:p.Glu440_Gly1267delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084790" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.1:c.1177G>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Glu393Ter", "hgvsWellDefined": "XP_011515905.1:p.Glu393_Gly1234delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084791" }, { "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517604.1:c.1177G>T" ], "proteinEffect": { "hgvs": "XP_011515906.1:p.Glu393Ter", "hgvsWellDefined": "XP_011515906.1:p.Glu393_Gly1234delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084792" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517605.1:c.1177G>T" ], "proteinEffect": { "hgvs": "XP_011515907.1:p.Glu393Ter", "hgvsWellDefined": "XP_011515907.1:p.Glu393_Gly1234delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084793" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517606.1:c.1153G>T" ], "proteinEffect": { "hgvs": "XP_011515908.1:p.Glu385Ter", "hgvsWellDefined": "XP_011515908.1:p.Glu385_Gly1226delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084794" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.1:c.1153G>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Glu385Ter", "hgvsWellDefined": "XP_011515909.1:p.Glu385_Gly1226delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084795" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517608.1:c.1072G>T" ], "proteinEffect": { "hgvs": "XP_011515910.1:p.Glu358Ter", "hgvsWellDefined": "XP_011515910.1:p.Glu358_Gly1199delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084796" }, { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "G", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.1:c.298G>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Glu100Ter", "hgvsWellDefined": "XP_011515911.1:p.Glu100_Gly941delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084797" }, { "@id": "http://reg.genome.network/allele/PA2828077724", "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.1:c.1072G>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Glu358Ter", "hgvsWellDefined": "NP_001350060.1:p.Glu358_Gly1199delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523185" }, { "@id": "http://reg.genome.network/allele/PA2828078439", "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.1:c.1153G>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Glu385Ter", "hgvsWellDefined": "NP_001350061.1:p.Glu385_Gly1161delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523186" }, { "@id": "http://reg.genome.network/allele/PA2828079108", "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.1:c.1072G>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Glu358Ter", "hgvsWellDefined": "NP_001350062.1:p.Glu358_Gly1134delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523187" }, { "@id": "http://reg.genome.network/allele/PA916044926", "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364869.1:c.1261G>T" ], "proteinEffect": { "hgvs": "NP_001351798.1:p.Glu421Ter", "hgvsWellDefined": "NP_001351798.1:p.Glu421_Gly1248delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523965" }, { "@id": "http://reg.genome.network/allele/PA2828157794", "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364870.1:c.1081G>T" ], "proteinEffect": { "hgvs": "NP_001351799.1:p.Glu361Ter", "hgvsWellDefined": "NP_001351799.1:p.Glu361_Gly1188delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523966" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.4:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Glu475Ter", "hgvsWellDefined": "XP_005251362.2:p.Glu475_Gly1302delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533577" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.3:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Glu475Ter", "hgvsWellDefined": "XP_006716537.2:p.Glu475_Gly1251delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539186" }, { "coordinates": [ { "allele": "T", "end": 1465, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1465, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.3:c.1194-6217G>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:n.1194-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539187" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.2:c.1423G>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Glu475Ter", "hgvsWellDefined": "XP_011515900.1:p.Glu475_Gly1316delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544596" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.2:c.1399G>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Glu467Ter", "hgvsWellDefined": "XP_011515901.1:p.Glu467_Gly1308delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544597" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.2:c.1399G>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Glu467Ter", "hgvsWellDefined": "XP_011515902.1:p.Glu467_Gly1294delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544598" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.2:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Glu440Ter", "hgvsWellDefined": "XP_011515903.1:p.Glu440_Gly1281delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544599" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.2:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Glu440Ter", "hgvsWellDefined": "XP_011515904.1:p.Glu440_Gly1267delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544600" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.2:c.1177G>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Glu393Ter", "hgvsWellDefined": "XP_011515905.1:p.Glu393_Gly1234delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544601" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.2:c.1153G>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Glu385Ter", "hgvsWellDefined": "XP_011515909.1:p.Glu385_Gly1226delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544602" }, { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "G", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.2:c.298G>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Glu100Ter", "hgvsWellDefined": "XP_011515911.1:p.Glu100_Gly941delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544603" }, { "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013847.2:c.1324G>T" ], "proteinEffect": { "hgvs": "XP_016869336.1:p.Glu442Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566993" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013848.2:c.1300G>T" ], "proteinEffect": { "hgvs": "XP_016869337.1:p.Glu434Ter", "hgvsWellDefined": "XP_016869337.1:p.Glu434_Gly1261delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566994" }, { "coordinates": [ { "allele": "T", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013849.2:c.1219G>T" ], "proteinEffect": { "hgvs": "XP_016869338.1:p.Glu407Ter", "hgvsWellDefined": "XP_016869338.1:p.Glu407_Gly1248delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566995" }, { "coordinates": [ { "allele": "T", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013850.2:c.1219G>T" ], "proteinEffect": { "hgvs": "XP_016869339.1:p.Glu407Ter", "hgvsWellDefined": "XP_016869339.1:p.Glu407_Gly1234delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566996" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013851.2:c.1072G>T" ], "proteinEffect": { "hgvs": "XP_016869340.1:p.Glu358Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566997" }, { "coordinates": [ { "allele": "T", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013852.2:c.1219G>T" ], "proteinEffect": { "hgvs": "XP_016869341.1:p.Glu407Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566998" }, { "coordinates": [ { "allele": "T", "end": 1441, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1441, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013854.2:c.1170-6217G>T" ], "proteinEffect": { "hgvs": "XP_016869343.1:n.1170-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566999" }, { "coordinates": [ { "allele": "T", "end": 1360, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1360, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013855.2:c.1089-6217G>T" ], "proteinEffect": { "hgvs": "XP_016869344.1:n.1089-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567000" }, { "coordinates": [ { "allele": "T", "end": 1025, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1025, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013856.2:c.843-6217G>T" ], "proteinEffect": { "hgvs": "XP_016869345.1:n.843-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567001" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013858.2:c.-151G>T" ], "proteinEffect": { "hgvs": "XP_016869347.1:n.-151G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567002" }, { "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447278.1:c.1153G>T" ], "proteinEffect": { "hgvs": "XP_024303046.1:p.Glu385Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580865" }, { "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "G", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447279.1:c.1072G>T" ], "proteinEffect": { "hgvs": "XP_024303047.1:p.Glu358Ter", "hgvsWellDefined": "XP_024303047.1:p.Glu358_Gly1199delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580866" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447281.1:c.1072G>T" ], "proteinEffect": { "hgvs": "XP_024303049.1:p.Glu358Ter", "hgvsWellDefined": "XP_024303049.1:p.Glu358_Gly1134delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580867" }, { "coordinates": [ { "allele": "T", "end": 1124, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 1124, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447282.1:c.924-6217G>T" ], "proteinEffect": { "hgvs": "XP_024303050.1:n.924-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580868" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447283.1:c.298G>T" ], "proteinEffect": { "hgvs": "XP_024303051.1:p.Glu100Ter", "hgvsWellDefined": "XP_024303051.1:p.Glu100_Gly927delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580869" }, { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447284.1:c.-151G>T" ], "proteinEffect": { "hgvs": "XP_024303052.1:n.-151G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580870" }, { "@id": "http://reg.genome.network/allele/PA2828077724", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.2:c.1072G>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Glu358Ter", "hgvsWellDefined": "NP_001350060.1:p.Glu358_Gly1199delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690613" }, { "@id": "http://reg.genome.network/allele/PA2828078439", "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.2:c.1153G>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Glu385Ter", "hgvsWellDefined": "NP_001350061.1:p.Glu385_Gly1161delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690614" }, { "@id": "http://reg.genome.network/allele/PA2828079108", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.2:c.1072G>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Glu358Ter", "hgvsWellDefined": "NP_001350062.1:p.Glu358_Gly1134delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690615" }, { "@id": "http://reg.genome.network/allele/PA2826794552", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.2:c.298G>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Glu100Ter", "hgvsWellDefined": "NP_001278268.1:p.Glu100_Gly876delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716685" }, { "@id": "http://reg.genome.network/allele/PA2828892419", "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001382391.1:c.1153G>T" ], "proteinEffect": { "hgvs": "NP_001369320.1:p.Glu385Ter", "hgvsWellDefined": "NP_001369320.1:p.Glu385_Gly1226delinsGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.1153G>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.1153G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Glu385Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Glu385Ter" } } } } ], "type": "nucleotide" }