{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277737", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214207[alleleid]", "alleleId": 214207, "preferredName": "NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217566", "RCV": [ "RCV000201628", "RCV002517309", "RCV001332490" ], "variationId": 217566 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-37154075-G-A", "id": "5-37154075-G-A", "variant": "5:37154075 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37154075G>A?assembly=hg19", "id": "chr5:g.37154075G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37153973G>A?assembly=hg38", "id": "chr5:g.37153973G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/147416429", "rs": 147416429 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37154075-G-A?dataset=gnomad_r2_1", "id": "5-37154075-G-A", "variant": "5:37154075 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37153973-G-A?dataset=gnomad_r4", "id": "5-37153973-G-A", "variant": "5:37153973 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37153973, "referenceAllele": "G", "start": 37153972 } ], "hgvs": [ "NC_000005.10:g.37153973G>A", "CM000667.2:g.37153973G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37154075, "referenceAllele": "G", "start": 37154074 } ], "hgvs": [ "NC_000005.9:g.37154075G>A", "CM000667.1:g.37154075G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37189832, "referenceAllele": "G", "start": 37189831 } ], "hgvs": [ "NC_000005.8:g.37189832G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 100456, "referenceAllele": "C", "start": 100455 } ], "hgvs": [ "NG_032772.1:g.100456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "T", "end": 100456, "referenceAllele": "C", "start": 100455 } ], "hgvs": [ "NG_032772.2:g.100456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000510830.2:n.1139C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758224" }, { "coordinates": [ { "allele": "T", "end": 8319, "referenceAllele": "C", "start": 8318 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.8140C>T" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.Arg2714Ter", "hgvsWellDefined": "ENSP00000498265.2:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.8140C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.8140C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Arg2714Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Arg2714Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 8209, "referenceAllele": "C", "start": 8208 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.7978C>T" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.Arg2660Ter", "hgvsWellDefined": "ENSP00000389014.2:p.Arg2660_Leu3197delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "T", "end": 8072, "referenceAllele": "C", "start": 8071 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.7978C>T" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.Arg2660Ter", "hgvsWellDefined": "ENSP00000421690.1:p.Arg2660_Leu3197delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "T", "end": 5152, "referenceAllele": "C", "start": 5151 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.5152C>T" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.Arg1718Ter", "hgvsWellDefined": "ENSP00000426337.1:p.Arg1718_Arg1889delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProValPheGlnTyrIleArgSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509957.5:n.382C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340596" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511210.5:n.431C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341530" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511824.2:c.1254C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS342006" }, { "coordinates": [ { "allele": "T", "end": 5176, "referenceAllele": "C", "start": 5175 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.5176C>T" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.Arg1726Ter", "hgvsWellDefined": "ENSP00000424223.1:p.Arg1726_Leu2263delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000515380.1:n.392C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344624" }, { "@id": "http://reg.genome.network/allele/PA277738", "coordinates": [ { "allele": "T", "end": 8209, "referenceAllele": "C", "start": 8208 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.7978C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Arg2660Ter", "hgvsWellDefined": "NP_075561.3:p.Arg2660_Leu3197delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "T", "end": 8315, "referenceAllele": "C", "start": 8314 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Arg2714Ter", "hgvsWellDefined": "XP_005248402.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "T", "end": 8312, "referenceAllele": "C", "start": 8311 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.8137C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Arg2713Ter", "hgvsWellDefined": "XP_005248403.1:p.Arg2713_Leu3250delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "T", "end": 8312, "referenceAllele": "C", "start": 8311 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.8137C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Arg2713Ter", "hgvsWellDefined": "XP_005248404.1:p.Arg2713_Leu3250delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "T", "end": 8204, "referenceAllele": "C", "start": 8203 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.8029C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Arg2677Ter", "hgvsWellDefined": "XP_005248406.1:p.Arg2677_Leu3214delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "T", "end": 8186, "referenceAllele": "C", "start": 8185 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Arg2671Ter", "hgvsWellDefined": "XP_005248407.1:p.Arg2671_Leu3208delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "T", "end": 4976, "referenceAllele": "C", "start": 4975 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.4783C>T" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.Arg1595Ter", "hgvsWellDefined": "XP_005248410.1:p.Arg1595_Leu2132delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "T", "end": 8315, "referenceAllele": "C", "start": 8314 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.Arg2714Ter", "hgvsWellDefined": "XP_006714552.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.2:c.2713C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Arg905Ter", "hgvsWellDefined": "XP_006714554.1:p.Arg905_Leu1442delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070686" }, { "coordinates": [ { "allele": "T", "end": 8268, "referenceAllele": "C", "start": 8267 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512387.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "T", "end": 8358, "referenceAllele": "C", "start": 8357 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512388.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "T", "end": 8261, "referenceAllele": "C", "start": 8260 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.8086C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Arg2696Ter", "hgvsWellDefined": "XP_011512389.1:p.Arg2696_Leu3233delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "T", "end": 8207, "referenceAllele": "C", "start": 8206 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.8032C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Arg2678Ter", "hgvsWellDefined": "XP_011512390.1:p.Arg2678_Leu3215delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "T", "end": 8315, "referenceAllele": "C", "start": 8314 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512391.1:p.Arg2714_Tyr3199delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "T", "end": 8234, "referenceAllele": "C", "start": 8233 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.7822C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Arg2608Ter", "hgvsWellDefined": "XP_011512392.1:p.Arg2608_Leu3145delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "T", "end": 7549, "referenceAllele": "C", "start": 7548 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.7468C>T" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.Arg2490Ter", "hgvsWellDefined": "XP_011512393.1:p.Arg2490_Leu3027delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "T", "end": 8316, "referenceAllele": "C", "start": 8315 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512394.1:p.Arg2714_Lys3023delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "T", "end": 5408, "referenceAllele": "C", "start": 5407 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.5365C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Arg1789Ter", "hgvsWellDefined": "XP_011512396.1:p.Arg1789_Leu2326delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "T", "end": 8315, "referenceAllele": "C", "start": 8314 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.8315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "T", "end": 8315, "referenceAllele": "C", "start": 8314 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.8315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "T", "end": 8442, "referenceAllele": "C", "start": 8441 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Arg2714Ter", "hgvsWellDefined": "XP_005248402.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "T", "end": 8439, "referenceAllele": "C", "start": 8438 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.8137C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Arg2713Ter", "hgvsWellDefined": "XP_005248403.1:p.Arg2713_Leu3250delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "T", "end": 8439, "referenceAllele": "C", "start": 8438 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.8137C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Arg2713Ter", "hgvsWellDefined": "XP_005248404.1:p.Arg2713_Leu3250delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "T", "end": 8331, "referenceAllele": "C", "start": 8330 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.8029C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Arg2677Ter", "hgvsWellDefined": "XP_005248406.1:p.Arg2677_Leu3214delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "T", "end": 8313, "referenceAllele": "C", "start": 8312 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Arg2671Ter", "hgvsWellDefined": "XP_005248407.1:p.Arg2671_Leu3208delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.3:c.2713C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Arg905Ter", "hgvsWellDefined": "XP_006714554.1:p.Arg905_Leu1442delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538727" }, { "coordinates": [ { "allele": "T", "end": 8491, "referenceAllele": "C", "start": 8490 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512387.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "T", "end": 8377, "referenceAllele": "C", "start": 8376 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512388.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "T", "end": 8310, "referenceAllele": "C", "start": 8309 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.8086C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Arg2696Ter", "hgvsWellDefined": "XP_011512389.1:p.Arg2696_Leu3233delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "T", "end": 8256, "referenceAllele": "C", "start": 8255 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.8032C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Arg2678Ter", "hgvsWellDefined": "XP_011512390.1:p.Arg2678_Leu3215delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "T", "end": 8364, "referenceAllele": "C", "start": 8363 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512391.1:p.Arg2714_Tyr3199delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "T", "end": 8252, "referenceAllele": "C", "start": 8251 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.7822C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Arg2608Ter", "hgvsWellDefined": "XP_011512392.1:p.Arg2608_Leu3145delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "T", "end": 8364, "referenceAllele": "C", "start": 8363 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Arg2714Ter", "hgvsWellDefined": "XP_011512394.1:p.Arg2714_Lys3023delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "T", "end": 5413, "referenceAllele": "C", "start": 5412 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.5365C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Arg1789Ter", "hgvsWellDefined": "XP_011512396.1:p.Arg1789_Leu2326delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "T", "end": 8090, "referenceAllele": "C", "start": 8089 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.7951C>T" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.Arg2651Ter", "hgvsWellDefined": "XP_016865249.1:p.Arg2651_Leu3188delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "T", "end": 8117, "referenceAllele": "C", "start": 8116 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.7951C>T" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.Arg2651Ter", "hgvsWellDefined": "XP_016865250.1:p.Arg2651_Leu3188delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "T", "end": 7690, "referenceAllele": "C", "start": 7689 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.7147C>T" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.Arg2383Ter", "hgvsWellDefined": "XP_016865252.1:p.Arg2383_Leu2920delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "T", "end": 8059, "referenceAllele": "C", "start": 8058 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.6952C>T" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.Arg2318Ter", "hgvsWellDefined": "XP_016865254.1:p.Arg2318_Leu2855delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "T", "end": 5541, "referenceAllele": "C", "start": 5540 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.4783C>T" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.Arg1595Ter", "hgvsWellDefined": "XP_016865255.1:p.Arg1595_Leu2132delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "T", "end": 8355, "referenceAllele": "C", "start": 8354 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.7951C>T" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.Arg2651Ter", "hgvsWellDefined": "XP_024301951.1:p.Arg2651_Leu3188delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "T", "end": 8295, "referenceAllele": "C", "start": 8294 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.7822C>T" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.Arg2608Ter", "hgvsWellDefined": "XP_024301952.1:p.Arg2608_Leu3145delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "T", "end": 8188, "referenceAllele": "C", "start": 8187 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.7468C>T" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.Arg2490Ter", "hgvsWellDefined": "XP_024301953.1:p.Arg2490_Leu3027delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "T", "end": 8338, "referenceAllele": "C", "start": 8337 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.7147C>T" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.Arg2383Ter", "hgvsWellDefined": "XP_024301954.1:p.Arg2383_Leu2920delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "T", "end": 8309, "referenceAllele": "C", "start": 8308 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.8309C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "T", "end": 8255, "referenceAllele": "C", "start": 8254 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.8255C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "T", "end": 8364, "referenceAllele": "C", "start": 8363 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.8364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2573077409", "coordinates": [ { "allele": "T", "end": 8319, "referenceAllele": "C", "start": 8318 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.8140C>T" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.Arg2714Ter", "hgvsWellDefined": "NP_001371661.1:p.Arg2714_Leu3251delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.8140C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.8140C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Arg2714Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Arg2714Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA277738", "coordinates": [ { "allele": "T", "end": 8157, "referenceAllele": "C", "start": 8156 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.7978C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Arg2660Ter", "hgvsWellDefined": "NP_075561.3:p.Arg2660_Leu3197delinsPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }