{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA210345", "communityStandardTitle": [ "NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5949387", "active": true, "id": "COSM5949387" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214264[alleleid]", "alleleId": 214264, "preferredName": "NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217648", "RCV": [ "RCV000201785" ], "variationId": 217648 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-68070715-C-T", "id": "8-68070715-C-T", "variant": "8:68070715 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.68070715C>T?assembly=hg19", "id": "chr8:g.68070715C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.67158480C>T?assembly=hg38", "id": "chr8:g.67158480C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771203308", "rs": 771203308 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-68070715-C-T?dataset=gnomad_r2_1", "id": "8-68070715-C-T", "variant": "8:68070715 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67158480-C-T?dataset=gnomad_r3", "id": "8-67158480-C-T", "variant": "8:67158480 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67158480-C-T?dataset=gnomad_r4", "id": "8-67158480-C-T", "variant": "8:67158480 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 67158480, "referenceAllele": "C", "start": 67158479 } ], "hgvs": [ "NC_000008.11:g.67158480C>T", "CM000670.2:g.67158480C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68070715, "referenceAllele": "C", "start": 68070714 } ], "hgvs": [ "NC_000008.10:g.68070715C>T", "CM000670.1:g.68070715C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68233269, "referenceAllele": "C", "start": 68233268 } ], "hgvs": [ "NC_000008.9:g.68233269C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 99113, "referenceAllele": "C", "start": 99112 } ], "hgvs": [ "NG_034100.1:g.99113C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005742" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2400, "referenceAllele": "C", "start": 2399 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.11:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.6:p.Arg781Ter", "hgvsWellDefined": "ENSP00000262210.6:p.Arg781_Gly1248delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742299" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000521324.3:c.147C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758726" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000674993.1:c.2365C>T" ], "proteinEffect": { "hgvs": "ENSP00000502454.1:p.Arg789Ter", "hgvsWellDefined": "ENSP00000502454.1:p.Arg789_Gly1256delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774872" }, { "coordinates": [ { "allele": "T", "end": 2232, "referenceAllele": "C", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675306.2:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000502421.1:p.Arg667Ter", "hgvsWellDefined": "ENSP00000502421.1:p.Arg667_Gly1134delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775143" }, { "coordinates": [ { "allele": "T", "end": 2283, "referenceAllele": "C", "start": 2282 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675869.1:c.2080C>T" ], "proteinEffect": { "hgvs": "ENSP00000502747.1:p.Arg694Ter", "hgvsWellDefined": "ENSP00000502747.1:p.Arg694_Gly1161delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775633" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675955.1:c.2194C>T" ], "proteinEffect": { "hgvs": "ENSP00000501676.1:p.Arg732Ter", "hgvsWellDefined": "ENSP00000501676.1:p.Arg732_Gly1199delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775705" }, { "coordinates": [ { "allele": "T", "end": 3604, "referenceAllele": "C", "start": 3603 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675990.1:n.3604C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775734" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676113.1:c.2233C>T" ], "proteinEffect": { "hgvs": "ENSP00000501645.1:p.Arg745Ter", "hgvsWellDefined": "ENSP00000501645.1:p.Arg745_Gly1212delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775842" }, { "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676317.1:c.2260C>T" ], "proteinEffect": { "hgvs": "ENSP00000502047.1:p.Arg754Ter", "hgvsWellDefined": "ENSP00000502047.1:p.Arg754_Gly1221delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776014" }, { "coordinates": [ { "allele": "T", "end": 2045, "referenceAllele": "C", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676471.1:c.2008C>T" ], "proteinEffect": { "hgvs": "ENSP00000503711.1:p.Arg670Ter", "hgvsWellDefined": "ENSP00000503711.1:p.Arg670_Gly1137delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250958" }, { "coordinates": [ { "allele": "T", "end": 3820, "referenceAllele": "C", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519163.6:c.*2526C>T" ], "proteinEffect": { "hgvs": "ENSP00000428694.1:n.*2526C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346458" }, { "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519668.1:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000430092.1:p.Arg409Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS038021" }, { "coordinates": [ { "allele": "T", "end": 2775, "referenceAllele": "C", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.3:c.2503C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg835Ter", "hgvsWellDefined": 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"XP_006716537.2:p.Arg784_Gly1251delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071697" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.2:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:p.Arg658Ter", "hgvsWellDefined": "XP_006716540.2:p.Arg658_Gly1125delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071698" }, { "coordinates": [ { "allele": "T", "end": 2817, "referenceAllele": "C", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.1:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg849Ter", "hgvsWellDefined": "XP_011515900.1:p.Arg849_Gly1316delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084786" }, { "coordinates": [ { "allele": "T", "end": 2793, "referenceAllele": "C", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.1:c.2521C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg841Ter", "hgvsWellDefined": "XP_011515901.1:p.Arg841_Gly1308delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084787" }, { "coordinates": [ { "allele": "T", "end": 2751, "referenceAllele": "C", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.1:c.2479C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg827Ter", "hgvsWellDefined": "XP_011515902.1:p.Arg827_Gly1294delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084788" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.1:c.2440C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg814Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg814_Gly1281delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084789" }, { "coordinates": [ { "allele": "T", "end": 2670, "referenceAllele": "C", "start": 2669 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.1:c.2398C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg800Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg800_Gly1267delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084790" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.1:c.2299C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg767Ter", "hgvsWellDefined": "XP_011515905.1:p.Arg767_Gly1234delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084791" }, { "coordinates": [ { "allele": "T", "end": 2431, "referenceAllele": "C", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517604.1:c.2299C>T" ], "proteinEffect": { "hgvs": "XP_011515906.1:p.Arg767Ter", "hgvsWellDefined": "XP_011515906.1:p.Arg767_Gly1234delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084792" }, { "coordinates": [ { "allele": "T", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517605.1:c.2299C>T" ], "proteinEffect": { "hgvs": "XP_011515907.1:p.Arg767Ter", "hgvsWellDefined": "XP_011515907.1:p.Arg767_Gly1234delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084793" }, { "coordinates": [ { "allele": "T", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517606.1:c.2275C>T" ], "proteinEffect": { "hgvs": "XP_011515908.1:p.Arg759Ter", "hgvsWellDefined": "XP_011515908.1:p.Arg759_Gly1226delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084794" }, { "coordinates": [ { "allele": "T", "end": 2380, "referenceAllele": "C", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.1:c.2275C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg759Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg759_Gly1226delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084795" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517608.1:c.2194C>T" ], "proteinEffect": { "hgvs": "XP_011515910.1:p.Arg732Ter", "hgvsWellDefined": "XP_011515910.1:p.Arg732_Gly1199delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084796" }, { "coordinates": [ { "allele": "T", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.1:c.1420C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg474Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg474_Gly941delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084797" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517610.1:c.940C>T" ], "proteinEffect": { "hgvs": "XP_011515912.1:p.Arg314Ter", "hgvsWellDefined": "XP_011515912.1:p.Arg314_Gly781delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084798" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517611.1:c.580C>T" ], "proteinEffect": { "hgvs": "XP_011515913.1:p.Arg194Ter", "hgvsWellDefined": "XP_011515913.1:p.Arg194_Gly661delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084799" }, { "@id": "http://reg.genome.network/allele/PA2828077945", "coordinates": [ { "allele": "T", "end": 2375, "referenceAllele": "C", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.1:c.2194C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg732Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg732_Gly1199delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523185" }, { "@id": "http://reg.genome.network/allele/PA2828078622", "coordinates": [ { "allele": "T", "end": 2261, "referenceAllele": "C", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.1:c.2080C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg694Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg694_Gly1161delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523186" }, { "@id": "http://reg.genome.network/allele/PA2828079293", "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "C", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.1:c.1999C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg667Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg667_Gly1134delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523187" }, { "@id": "http://reg.genome.network/allele/PA916044939", "coordinates": [ { "allele": "T", "end": 2348, "referenceAllele": "C", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364869.1:c.2341C>T" ], "proteinEffect": { "hgvs": "NP_001351798.1:p.Arg781Ter", "hgvsWellDefined": "NP_001351798.1:p.Arg781_Gly1248delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523965" }, { "@id": "http://reg.genome.network/allele/PA2828158015", "coordinates": [ { "allele": "T", "end": 2168, "referenceAllele": "C", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364870.1:c.2161C>T" ], "proteinEffect": { "hgvs": "NP_001351799.1:p.Arg721Ter", "hgvsWellDefined": "NP_001351799.1:p.Arg721_Gly1188delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523966" }, { "coordinates": [ { "allele": "T", "end": 2775, "referenceAllele": "C", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.4:c.2503C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg835Ter", "hgvsWellDefined": "XP_005251362.2:p.Arg835_Gly1302delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533577" }, { "coordinates": [ { "allele": "T", "end": 2622, "referenceAllele": "C", "start": 2621 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.3:c.2350C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg784Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg784_Gly1251delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539186" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.3:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:p.Arg658Ter", "hgvsWellDefined": "XP_006716540.2:p.Arg658_Gly1125delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539187" }, { "coordinates": [ { "allele": "T", "end": 2817, "referenceAllele": "C", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg849Ter", "hgvsWellDefined": "XP_011515900.1:p.Arg849_Gly1316delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544596" }, { "coordinates": [ { "allele": "T", "end": 2793, "referenceAllele": "C", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.2:c.2521C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg841Ter", "hgvsWellDefined": "XP_011515901.1:p.Arg841_Gly1308delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544597" }, { "coordinates": [ { "allele": "T", "end": 2751, "referenceAllele": "C", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.2:c.2479C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg827Ter", "hgvsWellDefined": "XP_011515902.1:p.Arg827_Gly1294delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544598" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.2:c.2440C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg814Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg814_Gly1281delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544599" }, { "coordinates": [ { "allele": "T", "end": 2670, "referenceAllele": "C", "start": 2669 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.2:c.2398C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg800Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg800_Gly1267delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544600" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.2:c.2299C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg767Ter", "hgvsWellDefined": "XP_011515905.1:p.Arg767_Gly1234delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544601" }, { "coordinates": [ { "allele": "T", "end": 2380, "referenceAllele": "C", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.2:c.2275C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg759Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg759_Gly1226delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544602" }, { "coordinates": [ { "allele": "T", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.2:c.1420C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg474Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg474_Gly941delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544603" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517611.3:c.580C>T" ], "proteinEffect": { "hgvs": "XP_011515913.1:p.Arg194Ter", "hgvsWellDefined": "XP_011515913.1:p.Arg194_Gly661delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544604" }, { "coordinates": [ { "allele": "T", "end": 2676, "referenceAllele": "C", "start": 2675 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013847.2:c.2404C>T" ], "proteinEffect": { "hgvs": "XP_016869336.1:p.Arg802Ter", "hgvsWellDefined": "XP_016869336.1:p.Arg802_Gly1269delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566993" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013848.2:c.2380C>T" ], "proteinEffect": { "hgvs": "XP_016869337.1:p.Arg794Ter", "hgvsWellDefined": "XP_016869337.1:p.Arg794_Gly1261delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566994" }, { "coordinates": [ { "allele": "T", "end": 2613, "referenceAllele": "C", "start": 2612 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013849.2:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_016869338.1:p.Arg781Ter", "hgvsWellDefined": "XP_016869338.1:p.Arg781_Gly1248delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566995" }, { "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013850.2:c.2299C>T" ], "proteinEffect": { "hgvs": "XP_016869339.1:p.Arg767Ter", "hgvsWellDefined": "XP_016869339.1:p.Arg767_Gly1234delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566996" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013851.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_016869340.1:p.Arg718Ter", "hgvsWellDefined": "XP_016869340.1:p.Arg718_Gly1185delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566997" }, { "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013852.2:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_016869341.1:p.Arg716Ter", "hgvsWellDefined": "XP_016869341.1:p.Arg716_Gly1183delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566998" }, { "coordinates": [ { "allele": "T", "end": 2220, "referenceAllele": "C", "start": 2219 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013854.2:c.1948C>T" ], "proteinEffect": { "hgvs": "XP_016869343.1:p.Arg650Ter", "hgvsWellDefined": "XP_016869343.1:p.Arg650_Gly1117delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566999" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013855.2:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_016869344.1:p.Arg572Ter", "hgvsWellDefined": "XP_016869344.1:p.Arg572_Gly1039delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567000" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013856.2:c.1621C>T" ], "proteinEffect": { "hgvs": "XP_016869345.1:p.Arg541Ter", "hgvsWellDefined": "XP_016869345.1:p.Arg541_Gly1008delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567001" }, { "coordinates": [ { "allele": "T", "end": 1994, "referenceAllele": "C", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013858.2:c.787C>T" ], "proteinEffect": { "hgvs": "XP_016869347.1:p.Arg263Ter", "hgvsWellDefined": "XP_016869347.1:p.Arg263_Gly730delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567002" }, { "coordinates": [ { "allele": "T", "end": 2477, "referenceAllele": "C", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447278.1:c.2275C>T" ], "proteinEffect": { "hgvs": "XP_024303046.1:p.Arg759Ter", "hgvsWellDefined": "XP_024303046.1:p.Arg759_Gly1226delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580865" }, { "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447279.1:c.2194C>T" ], "proteinEffect": { "hgvs": "XP_024303047.1:p.Arg732Ter", "hgvsWellDefined": "XP_024303047.1:p.Arg732_Gly1199delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580866" }, { "coordinates": [ { "allele": "T", "end": 2148, "referenceAllele": "C", "start": 2147 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447281.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_024303049.1:p.Arg667Ter", "hgvsWellDefined": "XP_024303049.1:p.Arg667_Gly1134delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580867" }, { "coordinates": [ { "allele": "T", "end": 1903, "referenceAllele": "C", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447282.1:c.1702C>T" ], "proteinEffect": { "hgvs": "XP_024303050.1:p.Arg568Ter", "hgvsWellDefined": "XP_024303050.1:p.Arg568_Gly1035delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580868" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447283.1:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_024303051.1:p.Arg460Ter", "hgvsWellDefined": "XP_024303051.1:p.Arg460_Gly927delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580869" }, { "coordinates": [ { "allele": "T", "end": 2309, "referenceAllele": "C", "start": 2308 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447284.1:c.940C>T" ], "proteinEffect": { "hgvs": "XP_024303052.1:p.Arg314Ter", "hgvsWellDefined": "XP_024303052.1:p.Arg314_Gly781delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580870" }, { "@id": "http://reg.genome.network/allele/PA2828077945", "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.2:c.2194C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg732Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg732_Gly1199delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690613" }, { "@id": "http://reg.genome.network/allele/PA2828078622", "coordinates": [ { "allele": "T", "end": 2237, "referenceAllele": "C", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.2:c.2080C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg694Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg694_Gly1161delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690614" }, { "@id": "http://reg.genome.network/allele/PA2828079293", "coordinates": [ { "allele": "T", "end": 2156, "referenceAllele": "C", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.2:c.1999C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg667Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg667_Gly1134delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690615" }, { "@id": "http://reg.genome.network/allele/PA2826794737", "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Arg409Ter", "hgvsWellDefined": "NP_001278268.1:p.Arg409_Gly876delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716685" }, { "@id": "http://reg.genome.network/allele/PA2828892639", "coordinates": [ { "allele": "T", "end": 2432, "referenceAllele": "C", "start": 2431 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001382391.1:c.2275C>T" ], "proteinEffect": { "hgvs": "NP_001369320.1:p.Arg759Ter", "hgvsWellDefined": "NP_001369320.1:p.Arg759_Gly1226delinsGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.2275C>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.2275C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Arg759Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Arg759Ter" } } } } ], "type": "nucleotide" }