{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259989", "communityStandardTitle": [ "NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40029[alleleid]", "alleleId": 40029, "preferredName": "NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31072", "RCV": [ "RCV000024066", "RCV001065148" ], "variationId": 31072 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78032684C>T?assembly=hg19", "id": "chr17:g.78032684C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80058885C>T?assembly=hg38", "id": "chr17:g.80058885C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907093", "rs": 387907093 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80058885-C-T?dataset=gnomad_r4", "id": "17-80058885-C-T", "variant": "17:80058885 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 80058885, "referenceAllele": "C", "start": 80058884 } ], "hgvs": [ "NC_000017.11:g.80058885C>T", "CM000679.2:g.80058885C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78032684, "referenceAllele": "C", "start": 78032683 } ], "hgvs": [ "NC_000017.10:g.78032684C>T", "CM000679.1:g.78032684C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75647279, "referenceAllele": "C", "start": 75647278 } ], "hgvs": [ "NC_000017.9:g.75647279C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 27254, "referenceAllele": "C", "start": 27253 } ], "hgvs": [ "NG_029761.1:g.27254C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004637" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000397545.9:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000380679.4:p.Arg449Ter", "hgvsWellDefined": "ENSP00000380679.4:p.Arg449_Ser1142delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753657", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397545.9:c.1345C>T" }, "RefSeq": { "hgvs": "NM_017950.4:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380679.4:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_060420.2:p.Arg449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000269318.9:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000269318.5:p.Arg449Ter", "hgvsWellDefined": "ENSP00000269318.5:p.Arg449_Cys579delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252162" }, { "coordinates": [ { "allele": "T", "end": 1322, "endIntronDirection": "+", "endIntronOffset": 234, "referenceAllele": "C", "start": 1322, "startIntronDirection": "+", "startIntronOffset": 233 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000374876.4:c.1317+234C>T" ], "proteinEffect": { "hgvs": "ENSP00000364010.4:n.1317+234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270462" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000374877.7:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000364011.3:p.Arg449Ter", "hgvsWellDefined": "ENSP00000364011.3:p.Arg449_Ala1030delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270463" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000397545.8:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000380679.4:p.Arg449Ter", "hgvsWellDefined": "ENSP00000380679.4:p.Arg449_Ser1142delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277857" }, { "coordinates": [ { "allele": "T", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000574799.5:n.882C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS383838" }, { "@id": "http://reg.genome.network/allele/PA2826327091", "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001243342.1:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001230271.1:p.Arg449Ter", "hgvsWellDefined": "NP_001230271.1:p.Arg449_Ala1030delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018491" }, { "@id": "http://reg.genome.network/allele/PA259990", "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_017950.3:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_060420.2:p.Arg449Ter", "hgvsWellDefined": "NP_060420.2:p.Arg449_Ser1142delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035331" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_005257492.3:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_005257549.1:p.Arg449Ter", "hgvsWellDefined": "XP_005257549.1:p.Arg449_Cys579delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061726" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524963.1:c.1255C>T" ], "proteinEffect": { "hgvs": "XP_011523265.1:p.Arg419Ter", "hgvsWellDefined": "XP_011523265.1:p.Arg419_Ser1112delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092082" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524964.1:c.166C>T" ], "proteinEffect": { "hgvs": "XP_011523266.1:p.Arg56Ter", "hgvsWellDefined": "XP_011523266.1:p.Arg56_Ser749delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092083" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524965.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_011523267.1:p.Arg449Ter", "hgvsWellDefined": "XP_011523267.1:p.Arg449_Leu720delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092084" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_934495.1:n.1376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129808" }, { "@id": "http://reg.genome.network/allele/PA2827318308", "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001330508.1:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001317437.1:p.Arg449Ter", "hgvsWellDefined": "NP_001317437.1:p.Arg449_Cys579delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516881" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524963.3:c.1255C>T" ], "proteinEffect": { "hgvs": "XP_011523265.1:p.Arg419Ter", "hgvsWellDefined": "XP_011523265.1:p.Arg419_Ser1112delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547675" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524964.3:c.166C>T" ], "proteinEffect": { "hgvs": "XP_011523266.1:p.Arg56Ter", "hgvsWellDefined": "XP_011523266.1:p.Arg56_Ser749delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547676" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524965.3:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_011523267.1:p.Arg449Ter", "hgvsWellDefined": "XP_011523267.1:p.Arg449_Leu720delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547677" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_017024807.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016880296.1:p.Arg449Ter", "hgvsWellDefined": "XP_016880296.1:p.Arg449_Arg816delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgSerPheGlyHisThrIleAlaAlaValThrAlaThrAlaSerLeuLeuIleIleThrAsnValLeuSerIleAsnProProLeuProGluGlyIleGlnSerLeuSerAsnAlaSerLysGluProThrGluGluAlaSerThrGlyGlySerAspLeuProAspSerArgArgGlyGlnAsnAlaTrpArgAsnGlnCysLeuThrIleAlaSerCysPheIleAsnTyrAlaAlaAsnValIleGluTyrSerThrAlaIleThrAlaTyrArgAlaGlnGluHisLysThrArgLeuThrArgLeuLysSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575281" }, { "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "C", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_024450821.1:c.1255C>T" ], "proteinEffect": { "hgvs": "XP_024306589.1:p.Arg419Ter", "hgvsWellDefined": "XP_024306589.1:p.Arg419_Ser1112delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584351" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_001752550.2:n.1376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599235" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_934495.2:n.1376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610711" }, { "@id": "http://reg.genome.network/allele/PA259990", "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_017950.4:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_060420.2:p.Arg449Ter", "hgvsWellDefined": "NP_060420.2:p.Arg449_Ser1142delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669443", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397545.9:c.1345C>T" }, "RefSeq": { "hgvs": "NM_017950.4:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380679.4:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_060420.2:p.Arg449Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827318308", "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001330508.2:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001317437.1:p.Arg449Ter", "hgvsWellDefined": "NP_001317437.1:p.Arg449_Cys579delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686981" }, { "@id": "http://reg.genome.network/allele/PA2826327091", "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001243342.2:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001230271.1:p.Arg449Ter", "hgvsWellDefined": "NP_001230271.1:p.Arg449_Ala1030delinsAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714473" } ], "type": "nucleotide" }