{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342796", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40180[alleleid]", "alleleId": 40180, "preferredName": "NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31223", "RCV": [ "RCV000024222", "RCV000763544", "RCV001551136" ], "variationId": 31223 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-37165697-G-A", "id": "5-37165697-G-A", "variant": "5:37165697 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37165697G>A?assembly=hg19", "id": "chr5:g.37165697G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37165595G>A?assembly=hg38", "id": "chr5:g.37165595G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/139675596", "rs": 139675596 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37165697-G-A?dataset=gnomad_r2_1", "id": "5-37165697-G-A", "variant": "5:37165697 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37165595-G-A?dataset=gnomad_r3", "id": "5-37165595-G-A", "variant": "5:37165595 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37165595-G-A?dataset=gnomad_r4", "id": "5-37165595-G-A", "variant": "5:37165595 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37165595, "referenceAllele": "G", "start": 37165594 } ], "hgvs": [ "NC_000005.10:g.37165595G>A", "CM000667.2:g.37165595G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37165697, "referenceAllele": "G", "start": 37165696 } ], "hgvs": [ "NC_000005.9:g.37165697G>A", "CM000667.1:g.37165697G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37201454, "referenceAllele": "G", "start": 37201453 } ], "hgvs": [ "NC_000005.8:g.37201454G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 88834, "referenceAllele": "C", "start": 88833 } ], "hgvs": [ "NG_032772.1:g.88834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "T", "end": 88834, "referenceAllele": "C", "start": 88833 } ], "hgvs": [ "NG_032772.2:g.88834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7656, "referenceAllele": "C", "start": 7655 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.7477C>T" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.Arg2493Ter", "hgvsWellDefined": "ENSP00000498265.2:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.7477C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.7477C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Arg2493Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Arg2493Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000675149.1:n.597C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775015" }, { "coordinates": [ { "allele": "T", "end": 7708, "referenceAllele": "C", "start": 7707 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.7477C>T" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.Arg2493Ter", "hgvsWellDefined": "ENSP00000389014.2:p.Arg2493_Leu3197delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "T", "end": 7571, "referenceAllele": "C", "start": 7570 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.7477C>T" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.Arg2493Ter", "hgvsWellDefined": "ENSP00000421690.1:p.Arg2493_Leu3197delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "T", "end": 4489, "referenceAllele": "C", "start": 4488 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.4489C>T" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.Arg1497Ter", "hgvsWellDefined": "ENSP00000426337.1:p.Arg1497_Arg1889delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProValPheGlnTyrIleArgSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511824.2:c.549C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS342006" }, { "coordinates": [ { "allele": "T", "end": 4621, "referenceAllele": "C", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.4621C>T" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.Arg1541Ter", "hgvsWellDefined": "ENSP00000424223.1:p.Arg1541_Leu2263delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "@id": "http://reg.genome.network/allele/PA342797", "coordinates": [ { "allele": "T", "end": 7708, "referenceAllele": "C", "start": 7707 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.7477C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Arg2493Ter", "hgvsWellDefined": "NP_075561.3:p.Arg2493_Leu3197delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Arg2493Ter", "hgvsWellDefined": "XP_005248402.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "T", "end": 7649, "referenceAllele": "C", "start": 7648 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248403.1:p.Arg2492_Leu3250delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "T", "end": 7649, "referenceAllele": "C", "start": 7648 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248404.1:p.Arg2492_Leu3250delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "T", "end": 7649, "referenceAllele": "C", "start": 7648 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248406.1:p.Arg2492_Leu3214delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "T", "end": 7523, "referenceAllele": "C", "start": 7522 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.7348C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Arg2450Ter", "hgvsWellDefined": "XP_005248407.1:p.Arg2450_Leu3208delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "T", "end": 4313, "referenceAllele": "C", "start": 4312 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.4120C>T" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.Arg1374Ter", "hgvsWellDefined": "XP_005248410.1:p.Arg1374_Leu2132delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.Arg2493Ter", "hgvsWellDefined": "XP_006714552.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.2:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Arg684Ter", "hgvsWellDefined": "XP_006714554.1:p.Arg684_Leu1442delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070686" }, { "coordinates": [ { "allele": "T", "end": 7605, "referenceAllele": "C", "start": 7604 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512387.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "T", "end": 7695, "referenceAllele": "C", "start": 7694 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512388.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512389.1:p.Arg2493_Leu3233delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512390.1:p.Arg2493_Leu3215delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512391.1:p.Arg2493_Tyr3199delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "T", "end": 7571, "referenceAllele": "C", "start": 7570 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.7159C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Arg2387Ter", "hgvsWellDefined": "XP_011512392.1:p.Arg2387_Leu3145delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "T", "end": 6886, "referenceAllele": "C", "start": 6885 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.6805C>T" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.Arg2269Ter", "hgvsWellDefined": "XP_011512393.1:p.Arg2269_Leu3027delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "T", "end": 7653, "referenceAllele": "C", "start": 7652 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512394.1:p.Arg2493_Lys3023delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "T", "end": 7658, "referenceAllele": "C", "start": 7657 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514093.1:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512395.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512395.1:p.Arg2493_Leu2528delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysLysCysTyrLysMetIleIleLeuGlnLeuAspCysIleSerTrpProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081318" }, { "coordinates": [ { "allele": "T", "end": 4745, "referenceAllele": "C", "start": 4744 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.4702C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Arg1568Ter", "hgvsWellDefined": "XP_011512396.1:p.Arg1568_Leu2326delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.7652C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "T", "end": 7652, "referenceAllele": "C", "start": 7651 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.7652C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "T", "end": 7779, "referenceAllele": "C", "start": 7778 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Arg2493Ter", "hgvsWellDefined": "XP_005248402.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "T", "end": 7776, "referenceAllele": "C", "start": 7775 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248403.1:p.Arg2492_Leu3250delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "T", "end": 7776, "referenceAllele": "C", "start": 7775 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248404.1:p.Arg2492_Leu3250delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "T", "end": 7776, "referenceAllele": "C", "start": 7775 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.7474C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Arg2492Ter", "hgvsWellDefined": "XP_005248406.1:p.Arg2492_Leu3214delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "T", "end": 7650, "referenceAllele": "C", "start": 7649 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.7348C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Arg2450Ter", "hgvsWellDefined": "XP_005248407.1:p.Arg2450_Leu3208delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.3:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Arg684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538727" }, { "coordinates": [ { "allele": "T", "end": 7828, "referenceAllele": "C", "start": 7827 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512387.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "T", "end": 7714, "referenceAllele": "C", "start": 7713 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512388.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512389.1:p.Arg2493_Leu3233delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512390.1:p.Arg2493_Leu3215delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512391.1:p.Arg2493_Tyr3199delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "T", "end": 7589, "referenceAllele": "C", "start": 7588 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.7159C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Arg2387Ter", "hgvsWellDefined": "XP_011512392.1:p.Arg2387_Leu3145delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.7477C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Arg2493Ter", "hgvsWellDefined": "XP_011512394.1:p.Arg2493_Lys3023delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "T", "end": 4750, "referenceAllele": "C", "start": 4749 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.4702C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Arg1568Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "T", "end": 7427, "referenceAllele": "C", "start": 7426 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.7288C>T" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.Arg2430Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "T", "end": 7454, "referenceAllele": "C", "start": 7453 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.7288C>T" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.Arg2430Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "T", "end": 7027, "referenceAllele": "C", "start": 7026 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.6484C>T" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.Arg2162Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "T", "end": 7396, "referenceAllele": "C", "start": 7395 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.6289C>T" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.Arg2097Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "T", "end": 4878, "referenceAllele": "C", "start": 4877 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.4120C>T" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.Arg1374Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "T", "end": 7692, "referenceAllele": "C", "start": 7691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.7288C>T" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.Arg2430Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "T", "end": 7632, "referenceAllele": "C", "start": 7631 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.7159C>T" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.Arg2387Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "T", "end": 7525, "referenceAllele": "C", "start": 7524 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.6805C>T" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.Arg2269Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "T", "end": 7675, "referenceAllele": "C", "start": 7674 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.6484C>T" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.Arg2162Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.7701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.7701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "T", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.7701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2828982114", "coordinates": [ { "allele": "T", "end": 7656, "referenceAllele": "C", "start": 7655 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.7477C>T" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.Arg2493Ter", "hgvsWellDefined": "NP_001371661.1:p.Arg2493_Leu3251delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuValGlyHisThrTyrIleAsnValIleAspIleGluAlaAsnAspLeuLeuGlnGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGluValThrProAlaCysLeuAspGlyLysSerLeuArgAlaGlyIleThrGluValLysGluProSerValThrSerProThrProSerAspIleGlnGlnAsnLysGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.7477C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.7477C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Arg2493Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Arg2493Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA342797", "coordinates": [ { "allele": "T", "end": 7656, "referenceAllele": "C", "start": 7655 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.7477C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Arg2493Ter", "hgvsWellDefined": "NP_075561.3:p.Arg2493_Leu3197delinsProGluAsnSerIleIleAsnAsnAspAspSerGluIleIleLysLysProLysGluGlnGlnGluHisCysGlySerHisProLeuAspAspPheAspValProPheGluMetLeuGlnAspAspAsnThrSerAlaGlyLeuHisPheMetAlaSerValLysLysLysAlaIleGlySerGlnAspAlaSerThrAsnThrAspProGluHisGluProLeuThrAlaProGlnLeuLeuValProAspValTyrLeuAsnLeuLysLeuSerSerGluMetSerGluLysProTrpSerProSerIleProHisThrValThrAsnLeuGluLeuProValArgGluGluProSerAsnAspAsnValIleLysGlnGlnSerAspHisLeuAlaValProSerSerAlaGluLeuHisTyrMetAlaAlaSerValThrAsnAlaValProProHisAsnPheLysSerGlnGlyLeuProLysProGluPheArgPheLysGlyGlnSerThrLysSerAspSerAlaGluAspTyrLeuLeuTrpLysArgLeuGlnGlyValSerAlaAlaCysProAlaProSerSerAlaAlaHisGlnLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }