{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA150605", "communityStandardTitle": [ "NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106538[alleleid]", "alleleId": 106538, "preferredName": "NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100666", "RCV": [ "RCV000087066" ], "variationId": 100666 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.68070775C>T?assembly=hg19", "id": "chr8:g.68070775C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.67158540C>T?assembly=hg38", "id": "chr8:g.67158540C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777138", "rs": 587777138 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-68070775-C-T?dataset=gnomad_r2_1", "id": 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"ENSP00000262210.5:p.Arg774_Gly1221delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250958" }, { "coordinates": [ { "allele": "T", "end": 3880, "referenceAllele": "C", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519163.6:c.*2586C>T" ], "proteinEffect": { "hgvs": "ENSP00000428694.1:n.*2586C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346458" }, { "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000519668.1:c.1285C>T" ], "proteinEffect": { "hgvs": "ENSP00000430092.1:p.Arg429Ter", "hgvsWellDefined": "ENSP00000430092.1:p.Arg429_Gly876delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346874" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "ENST00000521168.5:n.325C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS348051" }, { "@id": "http://reg.genome.network/allele/PA2826794753", "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.1:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Arg429Ter", "hgvsWellDefined": "NP_001278268.1:p.Arg429_Gly876delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024195" }, { "@id": "http://reg.genome.network/allele/PA150606", "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_024790.6:c.2320C>T" ], "proteinEffect": { "hgvs": "NP_079066.5:p.Arg774Ter", "hgvsWellDefined": "NP_079066.5:p.Arg774_Gly1221delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038021" }, { "coordinates": [ { "allele": "T", "end": 2835, "referenceAllele": "C", "start": 2834 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.3:c.2563C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg855Ter", "hgvsWellDefined": "XP_005251362.2:p.Arg855_Gly1302delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059492" }, { "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.2:c.2410C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg804Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg804_Gly1251delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071697" }, { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:p.Arg678Ter", "hgvsWellDefined": "XP_006716540.2:p.Arg678_Gly1125delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071698" }, { "coordinates": [ { "allele": "T", "end": 2877, "referenceAllele": "C", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.1:c.2605C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg869Ter", "hgvsWellDefined": "XP_011515900.1:p.Arg869_Gly1316delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084786" }, { "coordinates": [ { "allele": "T", "end": 2853, "referenceAllele": "C", "start": 2852 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.1:c.2581C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg861Ter", "hgvsWellDefined": "XP_011515901.1:p.Arg861_Gly1308delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084787" }, { "coordinates": [ { "allele": "T", "end": 2811, "referenceAllele": "C", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.1:c.2539C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg847Ter", "hgvsWellDefined": "XP_011515902.1:p.Arg847_Gly1294delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084788" }, { "coordinates": [ { "allele": "T", "end": 2772, "referenceAllele": "C", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg834Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg834_Gly1281delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084789" }, { "coordinates": [ { "allele": "T", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.1:c.2458C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg820Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg820_Gly1267delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084790" }, { "coordinates": [ { "allele": "T", "end": 2560, "referenceAllele": "C", "start": 2559 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.1:c.2359C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg787Ter", "hgvsWellDefined": "XP_011515905.1:p.Arg787_Gly1234delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084791" }, { "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517604.1:c.2359C>T" ], "proteinEffect": { "hgvs": "XP_011515906.1:p.Arg787Ter", "hgvsWellDefined": "XP_011515906.1:p.Arg787_Gly1234delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084792" }, { "coordinates": [ { "allele": "T", "end": 2380, "referenceAllele": "C", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517605.1:c.2359C>T" ], "proteinEffect": { "hgvs": "XP_011515907.1:p.Arg787Ter", "hgvsWellDefined": "XP_011515907.1:p.Arg787_Gly1234delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084793" }, { "coordinates": [ { "allele": "T", "end": 2536, "referenceAllele": "C", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517606.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011515908.1:p.Arg779Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084794" }, { "coordinates": [ { "allele": "T", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg779Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg779_Gly1226delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084795" }, { "coordinates": [ { "allele": "T", "end": 2437, "referenceAllele": "C", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517608.1:c.2254C>T" ], "proteinEffect": { "hgvs": "XP_011515910.1:p.Arg752Ter", "hgvsWellDefined": "XP_011515910.1:p.Arg752_Gly1199delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084796" }, { "coordinates": [ { "allele": "T", "end": 2559, "referenceAllele": "C", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.1:c.1480C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg494Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg494_Gly941delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084797" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517610.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_011515912.1:p.Arg334Ter", "hgvsWellDefined": "XP_011515912.1:p.Arg334_Gly781delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084798" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517611.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011515913.1:p.Arg214Ter", "hgvsWellDefined": "XP_011515913.1:p.Arg214_Gly661delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084799" }, { "@id": "http://reg.genome.network/allele/PA2828077961", "coordinates": [ { "allele": "T", "end": 2435, "referenceAllele": "C", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.1:c.2254C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg752Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg752_Gly1199delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523185" }, { "@id": "http://reg.genome.network/allele/PA2828078639", "coordinates": [ { "allele": "T", "end": 2321, "referenceAllele": "C", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.1:c.2140C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg714Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg714_Gly1161delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523186" }, { "@id": "http://reg.genome.network/allele/PA2828079309", "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "C", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.1:c.2059C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg687Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg687_Gly1134delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523187" }, { "@id": "http://reg.genome.network/allele/PA916044941", "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364869.1:c.2401C>T" ], "proteinEffect": { "hgvs": "NP_001351798.1:p.Arg801Ter", "hgvsWellDefined": "NP_001351798.1:p.Arg801_Gly1248delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523965" }, { "@id": "http://reg.genome.network/allele/PA2828158030", "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001364870.1:c.2221C>T" ], "proteinEffect": { "hgvs": "NP_001351799.1:p.Arg741Ter", "hgvsWellDefined": "NP_001351799.1:p.Arg741_Gly1188delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523966" }, { "coordinates": [ { "allele": "T", "end": 2835, "referenceAllele": "C", "start": 2834 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_005251305.4:c.2563C>T" ], "proteinEffect": { "hgvs": "XP_005251362.2:p.Arg855Ter", "hgvsWellDefined": "XP_005251362.2:p.Arg855_Gly1302delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533577" }, { "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716474.3:c.2410C>T" ], "proteinEffect": { "hgvs": "XP_006716537.2:p.Arg804Ter", "hgvsWellDefined": "XP_006716537.2:p.Arg804_Gly1251delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539186" }, { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_006716477.3:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_006716540.2:p.Arg678Ter", "hgvsWellDefined": "XP_006716540.2:p.Arg678_Gly1125delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539187" }, { "coordinates": [ { "allele": "T", "end": 2877, "referenceAllele": "C", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517598.2:c.2605C>T" ], "proteinEffect": { "hgvs": "XP_011515900.1:p.Arg869Ter", "hgvsWellDefined": "XP_011515900.1:p.Arg869_Gly1316delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544596" }, { "coordinates": [ { "allele": "T", "end": 2853, "referenceAllele": "C", "start": 2852 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517599.2:c.2581C>T" ], "proteinEffect": { "hgvs": "XP_011515901.1:p.Arg861Ter", "hgvsWellDefined": "XP_011515901.1:p.Arg861_Gly1308delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544597" }, { "coordinates": [ { "allele": "T", "end": 2811, "referenceAllele": "C", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517600.2:c.2539C>T" ], "proteinEffect": { "hgvs": "XP_011515902.1:p.Arg847Ter", "hgvsWellDefined": "XP_011515902.1:p.Arg847_Gly1294delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544598" }, { "coordinates": [ { "allele": "T", "end": 2772, "referenceAllele": "C", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517601.2:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011515903.1:p.Arg834Ter", "hgvsWellDefined": "XP_011515903.1:p.Arg834_Gly1281delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544599" }, { "coordinates": [ { "allele": "T", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517602.2:c.2458C>T" ], "proteinEffect": { "hgvs": "XP_011515904.1:p.Arg820Ter", "hgvsWellDefined": "XP_011515904.1:p.Arg820_Gly1267delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544600" }, { "coordinates": [ { "allele": "T", "end": 2560, "referenceAllele": "C", "start": 2559 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517603.2:c.2359C>T" ], "proteinEffect": { "hgvs": "XP_011515905.1:p.Arg787Ter", "hgvsWellDefined": "XP_011515905.1:p.Arg787_Gly1234delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544601" }, { "coordinates": [ { "allele": "T", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517607.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011515909.1:p.Arg779Ter", "hgvsWellDefined": "XP_011515909.1:p.Arg779_Gly1226delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544602" }, { "coordinates": [ { "allele": "T", "end": 2559, "referenceAllele": "C", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517609.2:c.1480C>T" ], "proteinEffect": { "hgvs": "XP_011515911.1:p.Arg494Ter", "hgvsWellDefined": "XP_011515911.1:p.Arg494_Gly941delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544603" }, { "coordinates": [ { "allele": "T", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_011517611.3:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011515913.1:p.Arg214Ter", "hgvsWellDefined": "XP_011515913.1:p.Arg214_Gly661delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544604" }, { "coordinates": [ { "allele": "T", "end": 2736, "referenceAllele": "C", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013847.2:c.2464C>T" ], "proteinEffect": { "hgvs": "XP_016869336.1:p.Arg822Ter", "hgvsWellDefined": "XP_016869336.1:p.Arg822_Gly1269delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566993" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013848.2:c.2440C>T" ], "proteinEffect": { "hgvs": "XP_016869337.1:p.Arg814Ter", "hgvsWellDefined": "XP_016869337.1:p.Arg814_Gly1261delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566994" }, { "coordinates": [ { "allele": "T", "end": 2673, "referenceAllele": "C", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013849.2:c.2401C>T" ], "proteinEffect": { "hgvs": "XP_016869338.1:p.Arg801Ter", "hgvsWellDefined": "XP_016869338.1:p.Arg801_Gly1248delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566995" }, { "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "C", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013850.2:c.2359C>T" ], "proteinEffect": { "hgvs": "XP_016869339.1:p.Arg787Ter", "hgvsWellDefined": "XP_016869339.1:p.Arg787_Gly1234delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566996" }, { "coordinates": [ { "allele": "T", "end": 2395, "referenceAllele": "C", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013851.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_016869340.1:p.Arg738Ter", "hgvsWellDefined": "XP_016869340.1:p.Arg738_Gly1185delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566997" }, { "coordinates": [ { "allele": "T", "end": 2478, "referenceAllele": "C", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013852.2:c.2206C>T" ], "proteinEffect": { "hgvs": "XP_016869341.1:p.Arg736Ter", "hgvsWellDefined": "XP_016869341.1:p.Arg736_Gly1183delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566998" }, { "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "C", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013854.2:c.2008C>T" ], "proteinEffect": { "hgvs": "XP_016869343.1:p.Arg670Ter", "hgvsWellDefined": "XP_016869343.1:p.Arg670_Gly1117delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566999" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013855.2:c.1774C>T" ], "proteinEffect": { "hgvs": "XP_016869344.1:p.Arg592Ter", "hgvsWellDefined": "XP_016869344.1:p.Arg592_Gly1039delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567000" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013856.2:c.1681C>T" ], "proteinEffect": { "hgvs": "XP_016869345.1:p.Arg561Ter", "hgvsWellDefined": "XP_016869345.1:p.Arg561_Gly1008delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567001" }, { "coordinates": [ { "allele": "T", "end": 2054, "referenceAllele": "C", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_017013858.2:c.847C>T" ], "proteinEffect": { "hgvs": "XP_016869347.1:p.Arg283Ter", "hgvsWellDefined": "XP_016869347.1:p.Arg283_Gly730delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567002" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447278.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_024303046.1:p.Arg779Ter", "hgvsWellDefined": "XP_024303046.1:p.Arg779_Gly1226delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580865" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447279.1:c.2254C>T" ], "proteinEffect": { "hgvs": "XP_024303047.1:p.Arg752Ter", "hgvsWellDefined": "XP_024303047.1:p.Arg752_Gly1199delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580866" }, { "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447281.1:c.2059C>T" ], "proteinEffect": { "hgvs": "XP_024303049.1:p.Arg687Ter", "hgvsWellDefined": "XP_024303049.1:p.Arg687_Gly1134delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580867" }, { "coordinates": [ { "allele": "T", "end": 1963, "referenceAllele": "C", "start": 1962 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447282.1:c.1762C>T" ], "proteinEffect": { "hgvs": "XP_024303050.1:p.Arg588Ter", "hgvsWellDefined": "XP_024303050.1:p.Arg588_Gly1035delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580868" }, { "coordinates": [ { "allele": "T", "end": 2249, "referenceAllele": "C", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447283.1:c.1438C>T" ], "proteinEffect": { "hgvs": "XP_024303051.1:p.Arg480Ter", "hgvsWellDefined": "XP_024303051.1:p.Arg480_Gly927delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580869" }, { "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "XM_024447284.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_024303052.1:p.Arg334Ter", "hgvsWellDefined": "XP_024303052.1:p.Arg334_Gly781delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580870" }, { "@id": "http://reg.genome.network/allele/PA2828077961", "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363131.2:c.2254C>T" ], "proteinEffect": { "hgvs": "NP_001350060.1:p.Arg752Ter", "hgvsWellDefined": "NP_001350060.1:p.Arg752_Gly1199delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690613" }, { "@id": "http://reg.genome.network/allele/PA2828078639", "coordinates": [ { "allele": "T", "end": 2297, "referenceAllele": "C", "start": 2296 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363132.2:c.2140C>T" ], "proteinEffect": { "hgvs": "NP_001350061.1:p.Arg714Ter", "hgvsWellDefined": "NP_001350061.1:p.Arg714_Gly1161delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690614" }, { "@id": "http://reg.genome.network/allele/PA2828079309", "coordinates": [ { "allele": "T", "end": 2216, "referenceAllele": "C", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001363133.2:c.2059C>T" ], "proteinEffect": { "hgvs": "NP_001350062.1:p.Arg687Ter", "hgvsWellDefined": "NP_001350062.1:p.Arg687_Gly1134delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690615" }, { "@id": "http://reg.genome.network/allele/PA2826794753", "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001291339.2:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_001278268.1:p.Arg429Ter", "hgvsWellDefined": "NP_001278268.1:p.Arg429_Gly876delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716685" }, { "@id": "http://reg.genome.network/allele/PA2828892656", "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN026193", "geneNCBI_id": 79848, "geneSymbol": "CSPP1", "hgvs": [ "NM_001382391.1:c.2335C>T" ], "proteinEffect": { "hgvs": "NP_001369320.1:p.Arg779Ter", "hgvsWellDefined": "NP_001369320.1:p.Arg779_Gly1226delinsIleGlnGlnGluTyrGluGluGluGlnGluLysLysArgGluLysGluGluGluGlnArgLeuLysAsnGluGluHisIleArgLeuAlaGluGluArgGlnLysGluAlaGluArgLysLysLysGluGluGluGluLysTyrAsnLeuGlnLeuGlnHisTyrCysGluArgAspAsnLeuIleGlyGluGluThrLysHisMetArgGlnProSerProIleValProAlaLeuGlnAsnLysIleAlaSerLysLeuGlnArgProProSerValAspSerIleIleArgSerPheIleHisGluSerSerMetSerArgAlaGlnSerProProValProAlaArgLysAsnGlnLeuArgAlaGluGluGluLysLysAsnValIleMetGluLeuSerGluMetArgLysGlnLeuArgSerGluGluArgArgLeuGlnGluArgLeuLeuHisMetAspSerAspAspGluIleProIleArgLysLysGluArgAsnProMetAspIlePheAspMetAlaArgHisArgLeuGlnAlaProValArgArgGlnSerProLysGlyLeuAspAlaAlaThrPheGlnAsnValHisAspPheAsnGluLeuLysAspArgAspSerGluThrArgValAspLeuLysPheMetTyrLeuAspProProArgAspHisHisThrLeuGluIleGlnGlnGlnAlaLeuLeuArgGluGlnGlnLysArgLeuAsnArgIleLysMetGlnGluGlyAlaLysValAspLeuAspAlaIleProSerAlaLysValArgGluGlnArgMetProArgAspAspThrSerAspPheLeuLysAsnSerLeuLeuGluSerAspSerAlaPheIleGlyAlaTyrGlyGluThrTyrProAlaIleGluAspAspValLeuProProProSerGlnLeuProSerAlaArgGluArgArgArgAsnLysTrpLysGlyLeuAspIleAspSerSerArgProAsnValAlaProAspGlyLeuSerLeuLysSerIleSerSerValAsnValAspGluLeuArgValArgAsnGluGluArgMetArgArgLeuAsnGluPheHisAsnLysProIleAsnThrAspAspGluSerSerLeuValAspProAspAspIleMetLysHisIleGlyAspAspGlySerAsnSerValAlaThrGluProTrpLeuArgProGlyThrSerGluThrLeuLysArgPheMetAlaGluGlnLeuAsnGlnGluGlnGlnGlnIleProGlyLysProGlyThrPheThrTrpGlnGlyLeuSerThrAlaHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000678616.1:c.2335C>T" }, "RefSeq": { "hgvs": "NM_001382391.1:c.2335C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504733.1:p.Arg779Ter" }, "RefSeq": { "hgvs": "NP_001369320.1:p.Arg779Ter" } } } } ], "type": "nucleotide" }