{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16615716", "communityStandardTitle": [ "NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402576[alleleid]", "alleleId": 402576, "preferredName": "NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407770", "RCV": [ "RCV000472562", "RCV001782939" ], "variationId": 407770 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78032409G>T?assembly=hg19", "id": "chr17:g.78032409G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80058610G>T?assembly=hg38", "id": "chr17:g.80058610G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775299709", "rs": 775299709 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80058610-G-T?dataset=gnomad_r4", "id": "17-80058610-G-T", "variant": "17:80058610 G / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 80058610, "referenceAllele": "G", "start": 80058609 } ], "hgvs": [ "NC_000017.11:g.80058610G>T", "CM000679.2:g.80058610G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78032409, "referenceAllele": "G", "start": 78032408 } ], "hgvs": [ "NC_000017.10:g.78032409G>T", "CM000679.1:g.78032409G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75647004, "referenceAllele": "G", "start": 75647003 } ], "hgvs": [ "NC_000017.9:g.75647004G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 26979, "referenceAllele": "G", "start": 26978 } ], "hgvs": [ "NG_029761.1:g.26979G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004637" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000397545.9:c.1276G>T" ], "proteinEffect": { "hgvs": "ENSP00000380679.4:p.Glu426Ter", "hgvsWellDefined": "ENSP00000380679.4:p.Glu426_Ser1142delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753657", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397545.9:c.1276G>T" }, "RefSeq": { "hgvs": "NM_017950.4:c.1276G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380679.4:p.Glu426Ter" }, "RefSeq": { "hgvs": "NP_060420.2:p.Glu426Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000269318.9:c.1276G>T" ], "proteinEffect": { "hgvs": "ENSP00000269318.5:p.Glu426Ter", "hgvsWellDefined": "ENSP00000269318.5:p.Glu426_Cys579delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252162" }, { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000374876.4:c.1276G>T" ], "proteinEffect": { "hgvs": "ENSP00000364010.4:p.Glu426Ter", "hgvsWellDefined": "ENSP00000364010.4:p.Glu426_Leu478delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnGlyValGlyAspThrGlyAlaAlaPheIleProLysThrThrGlnGlyAspGlnValSerGlyArgGlyLysLysLysProGlyThrValValAlaArgValSerProAlaGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270462" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000374877.7:c.1276G>T" ], "proteinEffect": { "hgvs": "ENSP00000364011.3:p.Glu426Ter", "hgvsWellDefined": "ENSP00000364011.3:p.Glu426_Ala1030delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270463" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000397545.8:c.1276G>T" ], "proteinEffect": { "hgvs": "ENSP00000380679.4:p.Glu426Ter", "hgvsWellDefined": "ENSP00000380679.4:p.Glu426_Ser1142delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277857" }, { "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "ENST00000574799.5:n.813G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS383838" }, { "@id": "http://reg.genome.network/allele/PA2826327077", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001243342.1:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_001230271.1:p.Glu426Ter", "hgvsWellDefined": "NP_001230271.1:p.Glu426_Ala1030delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018491" }, { "@id": "http://reg.genome.network/allele/PA645424835", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_017950.3:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_060420.2:p.Glu426Ter", "hgvsWellDefined": "NP_060420.2:p.Glu426_Ser1142delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035331" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_005257492.3:c.1276G>T" ], "proteinEffect": { "hgvs": "XP_005257549.1:p.Glu426Ter", "hgvsWellDefined": "XP_005257549.1:p.Glu426_Cys579delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061726" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524963.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011523265.1:p.Glu396Ter", "hgvsWellDefined": "XP_011523265.1:p.Glu396_Ser1112delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092082" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524964.1:c.97G>T" ], "proteinEffect": { "hgvs": "XP_011523266.1:p.Glu33Ter", "hgvsWellDefined": "XP_011523266.1:p.Glu33_Ser749delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092083" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524965.1:c.1276G>T" ], "proteinEffect": { "hgvs": "XP_011523267.1:p.Glu426Ter", "hgvsWellDefined": "XP_011523267.1:p.Glu426_Leu720delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092084" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_934495.1:n.1307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129808" }, { "@id": "http://reg.genome.network/allele/PA2827318288", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001330508.1:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_001317437.1:p.Glu426Ter", "hgvsWellDefined": "NP_001317437.1:p.Glu426_Cys579delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516881" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524963.3:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_011523265.1:p.Glu396Ter", "hgvsWellDefined": "XP_011523265.1:p.Glu396_Ser1112delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547675" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524964.3:c.97G>T" ], "proteinEffect": { "hgvs": "XP_011523266.1:p.Glu33Ter", "hgvsWellDefined": "XP_011523266.1:p.Glu33_Ser749delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547676" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_011524965.3:c.1276G>T" ], "proteinEffect": { "hgvs": "XP_011523267.1:p.Glu426Ter", "hgvsWellDefined": "XP_011523267.1:p.Glu426_Leu720delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547677" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_017024807.1:c.1276G>T" ], "proteinEffect": { "hgvs": "XP_016880296.1:p.Glu426Ter", "hgvsWellDefined": "XP_016880296.1:p.Glu426_Arg816delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgSerPheGlyHisThrIleAlaAlaValThrAlaThrAlaSerLeuLeuIleIleThrAsnValLeuSerIleAsnProProLeuProGluGlyIleGlnSerLeuSerAsnAlaSerLysGluProThrGluGluAlaSerThrGlyGlySerAspLeuProAspSerArgArgGlyGlnAsnAlaTrpArgAsnGlnCysLeuThrIleAlaSerCysPheIleAsnTyrAlaAlaAsnValIleGluTyrSerThrAlaIleThrAlaTyrArgAlaGlnGluHisLysThrArgLeuThrArgLeuLysSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575281" }, { "coordinates": [ { "allele": "T", "end": 1870, "referenceAllele": "G", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XM_024450821.1:c.1186G>T" ], "proteinEffect": { "hgvs": "XP_024306589.1:p.Glu396Ter", "hgvsWellDefined": "XP_024306589.1:p.Glu396_Ser1112delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584351" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_001752550.2:n.1307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599235" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "XR_934495.2:n.1307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610711" }, { "@id": "http://reg.genome.network/allele/PA645424835", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_017950.4:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_060420.2:p.Glu426Ter", "hgvsWellDefined": "NP_060420.2:p.Glu426_Ser1142delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669443", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397545.9:c.1276G>T" }, "RefSeq": { "hgvs": "NM_017950.4:c.1276G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380679.4:p.Glu426Ter" }, "RefSeq": { "hgvs": "NP_060420.2:p.Glu426Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827318288", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001330508.2:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_001317437.1:p.Glu426Ter", "hgvsWellDefined": "NP_001317437.1:p.Glu426_Cys579delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuSerValSerLeuGluArgPheProSerGlnAsnIleAsnThrAlaArgSerArgLeuSerThrThrTrpHisSerAlaGlyIleLeuLeuArgGlySerPheLeuProGlyAlaSerArgAlaPheAlaSerValCysTyrGlyGlyAlaAlaValAspAsnArgIleArgGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686981" }, { "@id": "http://reg.genome.network/allele/PA2826327077", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN026090", "geneNCBI_id": 55036, "geneSymbol": "CCDC40", "hgvs": [ "NM_001243342.2:c.1276G>T" ], "proteinEffect": { "hgvs": "NP_001230271.1:p.Glu426Ter", "hgvsWellDefined": "NP_001230271.1:p.Glu426_Ala1030delinsThrGluArgIleArgAlaGluIleGluLysLysLysGlnAspLeuTyrValAspGlnLeuThrThrArgAlaGlnGlnLeuGluGluAspIleAlaLeuPheGluAlaGlnTyrLeuAlaGlnAlaGluAspThrArgIleLeuArgLysAlaValSerGluAlaCysThrGluIleAspAlaIleSerValGluLysArgArgIleMetGlnGlnTrpAlaSerSerLeuValGlyMetLysHisArgAspGluAlaHisArgAlaValLeuGluAlaLeuArgGlyCysGlnHisGlnAlaLysSerThrAspGlyGluIleGluAlaTyrLysLysSerIleMetLysGluGluGluLysAsnGluLysLeuAlaSerIleLeuAsnArgThrGluThrGluAlaThrLeuLeuGlnLysLeuThrThrGlnCysLeuThrLysGlnValAlaLeuGlnSerGlnPheAsnThrTyrArgLeuThrLeuGlnAspThrGluAspAlaLeuSerGlnAspGlnLeuGluGlnMetIleLeuThrGluGluLeuGlnAlaIleArgGlnAlaIleGlnGlyGluLeuGluLeuArgArgLysThrAspAlaAlaIleArgGluLysLeuGlnGluHisMetThrSerAsnLysThrThrLysTyrPheAsnGlnLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714473" } ], "type": "nucleotide" }