{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA150612", "communityStandardTitle": [ "NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106544[alleleid]", "alleleId": 106544, "preferredName": "NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100672", "RCV": [ "RCV000087072" ], "variationId": 100672 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-68007675-C-T", "id": "8-68007675-C-T", "variant": "8:68007675 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.68007675C>T?assembly=hg19", "id": "chr8:g.68007675C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.67095440C>T?assembly=hg38", "id": "chr8:g.67095440C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375113643", "rs": 375113643 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-68007675-C-T?dataset=gnomad_r2_1", "id": "8-68007675-C-T", "variant": "8:68007675 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67095440-C-T?dataset=gnomad_r3", "id": "8-67095440-C-T", "variant": "8:67095440 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-67095440-C-T?dataset=gnomad_r4", "id": "8-67095440-C-T", "variant": "8:67095440 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 67095440, "referenceAllele": "C", "start": 67095439 } ], "hgvs": [ "NC_000008.11:g.67095440C>T", "CM000670.2:g.67095440C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68007675, "referenceAllele": "C", "start": 68007674 } ], "hgvs": [ "NC_000008.10:g.68007675C>T", "CM000670.1:g.68007675C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 68170229, "referenceAllele": "C", "start": 68170228 } ], "hgvs": [ "NC_000008.9:g.68170229C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 36073, "referenceAllele": "C", "start": 36072 } ], "hgvs": [ "NG_034100.1:g.36073C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005742" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.11:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.6:p.Arg247Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS742299" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000674993.1:c.763C>T" ], "proteinEffect": { "hgvs": "ENSP00000502454.1:p.Arg255Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774872" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675306.2:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000502421.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000502421.1:p.Arg184_Gly1134delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775143" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675820.1:c.*422C>T" ], "proteinEffect": { "hgvs": "ENSP00000501959.1:n.*422C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775590" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675869.1:c.631C>T" ], "proteinEffect": { "hgvs": "ENSP00000502747.1:p.Arg211Ter", "hgvsWellDefined": "ENSP00000502747.1:p.Arg211_Gly1161delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775633" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000675955.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000501676.1:p.Arg184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775705" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676113.1:c.631C>T" ], "proteinEffect": { "hgvs": "ENSP00000501645.1:p.Arg211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775842" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676317.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000502047.1:p.Arg220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776014" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676471.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000503711.1:p.Arg220Ter", "hgvsWellDefined": "ENSP00000503711.1:p.Arg220_Gly1137delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776150" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676567.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000503427.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000503427.1:p.Arg184_Arg336delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776245" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676573.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000504532.1:p.Arg220Ter", "hgvsWellDefined": "ENSP00000504532.1:p.Arg220_Gly993delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776251" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676605.1:c.781C>T" ], "proteinEffect": { "hgvs": "ENSP00000503605.1:p.Arg261Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776283" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676695.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000503292.1:p.Arg83Ter", "hgvsWellDefined": "ENSP00000503292.1:p.Arg83_Leu436delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValValSerProCysHisProGlyTrpSerThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776371" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "C", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676697.1:n.1392C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776373" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676847.1:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000503336.1:p.Arg218Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776519" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676858.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000502925.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000502925.1:p.Arg184_Glu669delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgAspGlyValSerProTyrTrpProGlyTrpPheProThrProAspLeuArgGlnSerThrHisValGlyLeuProLysCysTrpAsnTyrSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776530" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000676882.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000504342.1:p.Arg220Ter", "hgvsWellDefined": "ENSP00000504342.1:p.Arg220_Gly1188delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776553" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677009.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000503297.1:p.Arg220Ter", "hgvsWellDefined": "ENSP00000503297.1:p.Arg220_Ser1059delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetMetMetArgValHisTrpLeuThrLeuMetThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776678" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677070.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000503014.1:p.Arg83Ter", "hgvsWellDefined": "ENSP00000503014.1:p.Arg83Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776738" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677256.1:c.*392C>T" ], "proteinEffect": { "hgvs": "ENSP00000504102.1:n.*392C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776919" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677430.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000504177.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000504177.1:p.Arg184_Lys773delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluAlaLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777092" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677455.1:n.699C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777117" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677473.1:c.559C>T" ], "proteinEffect": { "hgvs": "ENSP00000503534.1:p.Arg187Ter", "hgvsWellDefined": "ENSP00000503534.1:p.Arg187_Ile587delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777135" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677592.1:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000504516.1:p.Arg247Ter", "hgvsWellDefined": "ENSP00000504516.1:p.Arg247_Gly1215delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777250" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677619.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000504522.1:p.Arg184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS777277" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677836.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000504345.1:p.Arg83Ter", "hgvsWellDefined": "ENSP00000504345.1:p.Arg83_Cys416delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrCysLysLeuSerIleGlyTrpPheArgAsnAspGlyArgThrAlaCysSerLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777488" }, { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677845.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000503524.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000503524.1:p.Arg184_Tyr321delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777497" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000677855.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000504757.1:p.Arg83Ter", "hgvsWellDefined": "ENSP00000504757.1:p.Arg83_Asn517delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777507" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678017.1:c.-225C>T" ], "proteinEffect": { "hgvs": "ENSP00000504394.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777667" }, { "coordinates": [ { "allele": "T", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678156.1:n.844C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777806" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678204.1:c.*333C>T" ], "proteinEffect": { "hgvs": "ENSP00000504782.1:n.*333C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777853" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678216.1:n.265C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777865" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678318.1:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000503690.1:p.Arg247Ter", "hgvsWellDefined": "ENSP00000503690.1:p.Arg247_Gly1071delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777966" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678362.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000504317.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000504317.1:p.Arg184_Arg369delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778009" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678444.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000503879.1:p.Arg83Ter", "hgvsWellDefined": "ENSP00000503879.1:p.Arg83_Thr318delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluAsnThrIleThrGluMetAlaIleArgGluValAlaArgCysProSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778090" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678542.1:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000503878.1:p.Arg247Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778183" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678553.1:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000503747.1:p.Arg220Ter", "hgvsWellDefined": "ENSP00000503747.1:p.Arg220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778194" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678616.1:c.631C>T" ], "proteinEffect": { "hgvs": "ENSP00000504733.1:p.Arg211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778257", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE 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"ENSP00000504830.1:p.Arg220_Arg405delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778367" }, { "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678744.1:c.*230C>T" ], "proteinEffect": { "hgvs": "ENSP00000503495.1:n.*230C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778383" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "C", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678747.1:c.631C>T" ], "proteinEffect": { "hgvs": "ENSP00000503390.1:p.Arg211Ter", "hgvsWellDefined": "ENSP00000503390.1:p.Arg211_Gly1035delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778386" }, { "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678821.1:n.1944C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778459" }, { "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000678927.1:n.812C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778564" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679112.1:c.*572C>T" ], "proteinEffect": { "hgvs": "ENSP00000503739.1:n.*572C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778747" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000679226.1:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000503601.1:p.Arg184Ter", "hgvsWellDefined": "ENSP00000503601.1:p.Arg184_Gly1097delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778860" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000262210.9:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000262210.5:p.Arg220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS250958" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519163.6:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000428694.1:p.Arg219Ter", "hgvsWellDefined": "ENSP00000428694.1:p.Arg219_Arg404delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346458" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519668.1:c.-225C>T" ], "proteinEffect": { "hgvs": "ENSP00000430092.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346874" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.1:c.-225C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024195" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_024790.6:c.658C>T" ], "proteinEffect": { "hgvs": "NP_079066.5:p.Arg220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS038021" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.3:c.901C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523186" }, { "@id": "http://reg.genome.network/allele/PA2828078999", "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.1:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg184Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg184_Gly1134delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523187" }, { "coordinates": [ { "allele": "T", "end": 746, "referenceAllele": "C", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364869.1:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001351798.1:p.Arg247Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS523965" }, { "@id": "http://reg.genome.network/allele/PA2828157710", "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364870.1:c.658C>T" ], "proteinEffect": { "hgvs": "NP_001351799.1:p.Arg220Ter", "hgvsWellDefined": "NP_001351799.1:p.Arg220_Gly1188delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523966" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.4:c.901C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg301Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS533577" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.3:c.901C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg301Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg301_Gly1251delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539186" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.3:c.901C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:p.Arg301Ter", "hgvsWellDefined": "XP_006716540.2:p.Arg301_Gly1125delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539187" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.2:c.901C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg301Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544596" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.2:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg293Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544597" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ 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"http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.2:c.655C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg219Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544601" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.2:c.631C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544602" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.2:c.-225C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544603" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013847.2:c.901C>T" ], "proteinEffect": { "hgvs": "XP_016869336.1:p.Arg301Ter", "hgvsWellDefined": "XP_016869336.1:p.Arg301_Gly1269delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566993" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013848.2:c.877C>T" ], "proteinEffect": { "hgvs": "XP_016869337.1:p.Arg293Ter", "hgvsWellDefined": "XP_016869337.1:p.Arg293_Gly1261delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566994" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013849.2:c.796C>T" ], "proteinEffect": { "hgvs": "XP_016869338.1:p.Arg266Ter", "hgvsWellDefined": "XP_016869338.1:p.Arg266_Gly1248delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerTrpAsnGluLeuLeuThrSerLeuGlnLeuSerLysGluGluProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566995" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013850.2:c.796C>T" ], "proteinEffect": { "hgvs": "XP_016869339.1:p.Arg266Ter", "hgvsWellDefined": "XP_016869339.1:p.Arg266_Gly1234delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566996" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013851.2:c.550C>T" ], "proteinEffect": { "hgvs": "XP_016869340.1:p.Arg184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS566997" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013852.2:c.796C>T" ], "proteinEffect": { "hgvs": "XP_016869341.1:p.Arg266Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS567001" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013858.2:c.-574C>T" ], "proteinEffect": { "hgvs": "XP_016869347.1:n.-574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567002" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447278.1:c.631C>T" ], "proteinEffect": { "hgvs": "XP_024303046.1:p.Arg211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS580865" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447279.1:c.550C>T" ], 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"XP_024303049.1:p.Arg184_Gly1134delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580867" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447282.1:c.631C>T" ], "proteinEffect": { "hgvs": "XP_024303050.1:p.Arg211Ter", "hgvsWellDefined": "XP_024303050.1:p.Arg211_Gly1035delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleThrAspLeuAsnArgMetHisArgGlnAsnIleAspAlaTyrHisAsnProAspAlaArgThrTyrGluAspLysArgAlaValValSerLeuAspProAsnLeuAlaThrSerAsnAlaGluAsnLeuGluAspAlaAlaAsnLysSerSerGlyHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580868" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447283.1:c.-225C>T" ], "proteinEffect": { "hgvs": "XP_024303051.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580869" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447284.1:c.-673C>T" ], "proteinEffect": { "hgvs": "XP_024303052.1:n.-673C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580870" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690613" }, { "@id": "http://reg.genome.network/allele/PA2828078329", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.2:c.631C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg211Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg211_Gly1161delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690614" }, { "@id": "http://reg.genome.network/allele/PA2828078999", "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg184Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg184_Gly1134delinsLeuGluGluAspArgTyrArgGlnLeuAspAspGluIleGluLeuArgAsnArgArgIleIleLysLysAlaAsnGluGluValGlyIleSerAsnLeuLysHisGlnArgPheAlaSerLysAlaGlyIleProAspArgArgPheHisArgPheAsnGluAspArgValPheAspArgArgTyrHisArgProAspGlnAspProGluValSerGluGluMetAspGluArgPheArgTyrGluSerAspPheAspArgArgLeuSerArgValTyrThrAsnAspArgMetHisArgAsnLysArgGlyAsnMetProProMetGluHisAspGlyAspValIleGluGlnSerAsnIleArgIleSerSerAlaGluAsnLysSerAlaProAspAsnGluThrSerLysSerAlaAsnGlnAspThrCysSerProPheAlaGlyMetLeuPheGlyGlyGluAspArgGluLeuIleGlnArgArgLysGluLysTyrArgLeuGluLeuLeuGluGlnMetAlaGluGlnGlnArgAsnLysArgArgGluLysAspLeuGluLeuArgValAlaAlaSerGlyAlaGlnAspProGluLysSerProAspArgLeuLysGlnPheSerValAlaProArgHisPheGluGluMetIleProProGluArgProArgIleAlaPheGlnThrProLeuProProLeuSerAlaProSerValProProIleProSerValHisProValProSerGlnAsnGluAspLeuArgSerGlyLeuSerSerAlaLeuGlyGluMetValSerProArgIleAlaProLeuProProProProLeuLeuProProLeuAlaThrAsnTyrArgThrProTyrAspAspAlaTyrTyrPheTyrGlySerArgAsnThrPheAspProSerLeuAlaTyrTyrGlySerGlyMetMetGlyValGlnProAlaAlaTyrValSerAlaProValThrHisGlnLeuAlaGlnProValValAsnThrValGlyGlnAsnGluLeuLysIleThrSerAspGlnValIleAsnSerGlyLeuIlePheGluAspLysProLysProSerLysGlnSerLeuGlnSerTyrGlnGluAlaLeuGlnGlnGlnIleArgGluArgGluGluArgArgLysLysGluArgGluGluLysGluGluTyrGluAlaLysLeuGluAlaGluMetArgThrTyrAsnProTrpGlyLysGlyGlyGlyGlyAlaProLeuArgAspAlaLysGlyAsnLeuIleSerHisMetGlnThrGlnSerSerProPheAlaArgGlyAsnValPheGlyGluProProThrGluLeuGlnIleLysGlnGlnGluLeuTyrLysAsnPheLeuArgPheGlnIleGluGluLysLysGlnArgGluGluAlaGluArgGluArgLeuArgIleAlaGluGluLysGluGluArgArgLeuAlaGluGlnArgAlaArgIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690615" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.2:c.-225C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:n.-225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716685" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001382391.1:c.631C>T" ], "proteinEffect": { "hgvs": "NP_001369320.1:p.Arg211Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS722320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.631C>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.631C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Arg211Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Arg211Ter" } } } } ], "type": "nucleotide" }