{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279479", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214209[alleleid]", "alleleId": 214209, "preferredName": "NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217574", "RCV": [ "RCV000201681", "RCV003987448" ], "variationId": 217574 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37158360C>T?assembly=hg19", "id": "chr5:g.37158360C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37158258C>T?assembly=hg38", "id": "chr5:g.37158258C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863225159", "rs": 863225159 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37158258-C-T?dataset=gnomad_r4", "id": "5-37158258-C-T", "variant": "5:37158258 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37158258, "referenceAllele": "C", "start": 37158257 } ], "hgvs": [ "NC_000005.10:g.37158258C>T", "CM000667.2:g.37158258C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37158360, "referenceAllele": "C", "start": 37158359 } ], "hgvs": [ "NC_000005.9:g.37158360C>T", "CM000667.1:g.37158360C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37194117, "referenceAllele": "C", "start": 37194116 } ], "hgvs": [ "NC_000005.8:g.37194117C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 96171, "referenceAllele": "G", "start": 96170 } ], "hgvs": [ "NG_032772.1:g.96171G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "A", "end": 96171, "referenceAllele": "G", "start": 96170 } ], "hgvs": [ "NG_032772.2:g.96171G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 777, "referenceAllele": "G", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000510830.2:n.777G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758224" }, { "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.7778G>A" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.Trp2593Ter", "hgvsWellDefined": "ENSP00000498265.2:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.7778G>A" }, "RefSeq": { "hgvs": "NM_001384732.1:c.7778G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Trp2593Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Trp2593Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 8009, "referenceAllele": "G", "start": 8008 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.7778G>A" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.Trp2593Ter", "hgvsWellDefined": "ENSP00000389014.2:p.Trp2593_Leu3197delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "A", "end": 7872, "referenceAllele": "G", "start": 7871 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.7778G>A" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.Trp2593Ter", "hgvsWellDefined": "ENSP00000421690.1:p.Trp2593_Leu3197delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "A", "end": 4790, "referenceAllele": "G", "start": 4789 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.4790G>A" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.Trp1597Ter", "hgvsWellDefined": "ENSP00000426337.1:p.Trp1597_Arg1889delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProValPheGlnTyrIleArgSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "A", "end": 20, "referenceAllele": "G", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509957.5:n.20G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340596" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000510830.1:n.278G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341236" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511210.5:n.123G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341530" }, { "coordinates": [ { "allele": "A", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511824.2:c.850G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS342006" }, { "coordinates": [ { "allele": "A", "end": 4922, "referenceAllele": "G", "start": 4921 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.4922G>A" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.Trp1641Ter", "hgvsWellDefined": "ENSP00000424223.1:p.Trp1641_Leu2263delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "@id": "http://reg.genome.network/allele/PA279480", "coordinates": [ { "allele": "A", "end": 8009, "referenceAllele": "G", "start": 8008 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.7778G>A" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Trp2593Ter", "hgvsWellDefined": "NP_075561.3:p.Trp2593_Leu3197delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Trp2593Ter", "hgvsWellDefined": "XP_005248402.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "A", "end": 7950, "referenceAllele": "G", "start": 7949 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248403.1:p.Trp2592_Leu3250delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "A", "end": 7950, "referenceAllele": "G", "start": 7949 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248404.1:p.Trp2592_Leu3250delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "A", "end": 7950, "referenceAllele": "G", "start": 7949 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248406.1:p.Trp2592_Leu3214delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "A", "end": 7824, "referenceAllele": "G", "start": 7823 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.7649G>A" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Trp2550Ter", "hgvsWellDefined": "XP_005248407.1:p.Trp2550_Leu3208delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "A", "end": 4614, "referenceAllele": "G", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.4421G>A" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.Trp1474Ter", "hgvsWellDefined": "XP_005248410.1:p.Trp1474_Leu2132delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.Trp2593Ter", "hgvsWellDefined": "XP_006714552.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "G", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.2:c.2351G>A" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Trp784Ter", "hgvsWellDefined": "XP_006714554.1:p.Trp784_Leu1442delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070686" }, { "coordinates": [ { "allele": "A", "end": 7906, "referenceAllele": "G", "start": 7905 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512387.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "A", "end": 7996, "referenceAllele": "G", "start": 7995 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512388.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512389.1:p.Trp2593_Leu3233delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512390.1:p.Trp2593_Leu3215delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512391.1:p.Trp2593_Tyr3199delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "A", "end": 7872, "referenceAllele": "G", "start": 7871 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.7460G>A" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Trp2487Ter", "hgvsWellDefined": "XP_011512392.1:p.Trp2487_Leu3145delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "A", "end": 7187, "referenceAllele": "G", "start": 7186 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.7106G>A" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.Trp2369Ter", "hgvsWellDefined": "XP_011512393.1:p.Trp2369_Leu3027delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "A", "end": 7954, "referenceAllele": "G", "start": 7953 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512394.1:p.Trp2593_Lys3023delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "A", "end": 5046, "referenceAllele": "G", "start": 5045 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.5003G>A" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Trp1668Ter", "hgvsWellDefined": "XP_011512396.1:p.Trp1668_Leu2326delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.7953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "A", "end": 7953, "referenceAllele": "G", "start": 7952 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.7953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "A", "end": 8080, "referenceAllele": "G", "start": 8079 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Trp2593Ter", "hgvsWellDefined": "XP_005248402.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "A", "end": 8077, "referenceAllele": "G", "start": 8076 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248403.1:p.Trp2592_Leu3250delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "A", "end": 8077, "referenceAllele": "G", "start": 8076 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248404.1:p.Trp2592_Leu3250delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "A", "end": 8077, "referenceAllele": "G", "start": 8076 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.7775G>A" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Trp2592Ter", "hgvsWellDefined": "XP_005248406.1:p.Trp2592_Leu3214delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.7649G>A" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Trp2550Ter", "hgvsWellDefined": "XP_005248407.1:p.Trp2550_Leu3208delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "G", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.3:c.2351G>A" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Trp784Ter", "hgvsWellDefined": "XP_006714554.1:p.Trp784_Leu1442delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538727" }, { "coordinates": [ { "allele": "A", "end": 8129, "referenceAllele": "G", "start": 8128 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512387.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "A", "end": 8015, "referenceAllele": "G", "start": 8014 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512388.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "A", "end": 8002, "referenceAllele": "G", "start": 8001 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512389.1:p.Trp2593_Leu3233delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "A", "end": 8002, "referenceAllele": "G", "start": 8001 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512390.1:p.Trp2593_Leu3215delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "A", "end": 8002, "referenceAllele": "G", "start": 8001 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512391.1:p.Trp2593_Tyr3199delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "A", "end": 7890, "referenceAllele": "G", "start": 7889 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.7460G>A" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Trp2487Ter", "hgvsWellDefined": "XP_011512392.1:p.Trp2487_Leu3145delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "A", "end": 8002, "referenceAllele": "G", "start": 8001 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.7778G>A" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Trp2593Ter", "hgvsWellDefined": "XP_011512394.1:p.Trp2593_Lys3023delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.5003G>A" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Trp1668Ter", "hgvsWellDefined": "XP_011512396.1:p.Trp1668_Leu2326delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "A", "end": 7728, "referenceAllele": "G", "start": 7727 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.7589G>A" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.Trp2530Ter", "hgvsWellDefined": "XP_016865249.1:p.Trp2530_Leu3188delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "A", "end": 7755, "referenceAllele": "G", "start": 7754 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.7589G>A" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.Trp2530Ter", "hgvsWellDefined": "XP_016865250.1:p.Trp2530_Leu3188delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "A", "end": 7328, "referenceAllele": "G", "start": 7327 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.6785G>A" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.Trp2262Ter", "hgvsWellDefined": "XP_016865252.1:p.Trp2262_Leu2920delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "A", "end": 7697, "referenceAllele": "G", "start": 7696 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.6590G>A" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.Trp2197Ter", "hgvsWellDefined": "XP_016865254.1:p.Trp2197_Leu2855delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "A", "end": 5179, "referenceAllele": "G", "start": 5178 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.4421G>A" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.Trp1474Ter", "hgvsWellDefined": "XP_016865255.1:p.Trp1474_Leu2132delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "A", "end": 7993, "referenceAllele": "G", "start": 7992 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.7589G>A" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.Trp2530Ter", "hgvsWellDefined": "XP_024301951.1:p.Trp2530_Leu3188delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "A", "end": 7933, "referenceAllele": "G", "start": 7932 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.7460G>A" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.Trp2487Ter", "hgvsWellDefined": "XP_024301952.1:p.Trp2487_Leu3145delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "A", "end": 7826, "referenceAllele": "G", "start": 7825 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.7106G>A" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.Trp2369Ter", "hgvsWellDefined": "XP_024301953.1:p.Trp2369_Leu3027delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "A", "end": 7976, "referenceAllele": "G", "start": 7975 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.6785G>A" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.Trp2262Ter", "hgvsWellDefined": "XP_024301954.1:p.Trp2262_Leu2920delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "A", "end": 7947, "referenceAllele": "G", "start": 7946 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.7947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "A", "end": 7947, "referenceAllele": "G", "start": 7946 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.7947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "A", "end": 8002, "referenceAllele": "G", "start": 8001 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.8002G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2828982161", "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.7778G>A" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.Trp2593Ter", "hgvsWellDefined": "NP_001371661.1:p.Trp2593_Leu3251delinsSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.7778G>A" }, "RefSeq": { "hgvs": "NM_001384732.1:c.7778G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Trp2593Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Trp2593Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA279480", "coordinates": [ { "allele": "A", "end": 7957, "referenceAllele": "G", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.7778G>A" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Trp2593Ter", "hgvsWellDefined": "NP_075561.3:p.Trp2593_Leu3197delinsSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }