{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279445", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214206[alleleid]", "alleleId": 214206, "preferredName": "NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217562", "RCV": [ "RCV000201646" ], "variationId": 217562 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37153886G>A?assembly=hg19", "id": "chr5:g.37153886G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37153784G>A?assembly=hg38", "id": "chr5:g.37153784G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863225152", "rs": 863225152 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37153784-G-A?dataset=gnomad_r4", "id": "5-37153784-G-A", "variant": "5:37153784 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37153784, "referenceAllele": "G", "start": 37153783 } ], "hgvs": [ "NC_000005.10:g.37153784G>A", "CM000667.2:g.37153784G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37153886, "referenceAllele": "G", "start": 37153885 } ], "hgvs": [ "NC_000005.9:g.37153886G>A", "CM000667.1:g.37153886G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37189643, "referenceAllele": "G", "start": 37189642 } ], "hgvs": [ "NC_000005.8:g.37189643G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 100645, "referenceAllele": "C", "start": 100644 } ], "hgvs": [ "NG_032772.1:g.100645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "T", "end": 100645, "referenceAllele": "C", "start": 100644 } ], "hgvs": [ "NG_032772.2:g.100645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000510830.2:n.1328C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758224" }, { "coordinates": [ { "allele": "T", "end": 8508, "referenceAllele": "C", "start": 8507 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.8329C>T" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.Gln2777Ter", "hgvsWellDefined": "ENSP00000498265.2:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.8329C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.8329C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Gln2777Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Gln2777Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 8398, "referenceAllele": "C", "start": 8397 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.8167C>T" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.Gln2723Ter", "hgvsWellDefined": "ENSP00000389014.2:p.Gln2723_Leu3197delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "T", "end": 8261, "referenceAllele": "C", "start": 8260 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.8167C>T" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.Gln2723Ter", "hgvsWellDefined": "ENSP00000421690.1:p.Gln2723_Leu3197delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "T", "end": 61, "referenceAllele": "C", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508405.1:n.61C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339433" }, { "coordinates": [ { "allele": "T", "end": 5341, "referenceAllele": "C", "start": 5340 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.5341C>T" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.Gln1781Ter", "hgvsWellDefined": "ENSP00000426337.1:p.Gln1781_Arg1889delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProValPheGlnTyrIleArgSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509957.5:n.571C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340596" }, { "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000511824.2:c.1443C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS342006" }, { "coordinates": [ { "allele": "T", "end": 5365, "referenceAllele": "C", "start": 5364 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.5365C>T" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.Gln1789Ter", "hgvsWellDefined": "ENSP00000424223.1:p.Gln1789_Leu2263delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "@id": "http://reg.genome.network/allele/PA279446", "coordinates": [ { "allele": "T", "end": 8398, "referenceAllele": "C", "start": 8397 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.8167C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Gln2723Ter", "hgvsWellDefined": "NP_075561.3:p.Gln2723_Leu3197delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "T", "end": 8504, "referenceAllele": "C", "start": 8503 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Gln2777Ter", "hgvsWellDefined": "XP_005248402.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "T", "end": 8501, "referenceAllele": "C", "start": 8500 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.8326C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Gln2776Ter", "hgvsWellDefined": "XP_005248403.1:p.Gln2776_Leu3250delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "T", "end": 8501, "referenceAllele": "C", "start": 8500 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.8326C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Gln2776Ter", "hgvsWellDefined": "XP_005248404.1:p.Gln2776_Leu3250delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "T", "end": 8393, "referenceAllele": "C", "start": 8392 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.8218C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Gln2740Ter", "hgvsWellDefined": "XP_005248406.1:p.Gln2740_Leu3214delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "T", "end": 8375, "referenceAllele": "C", "start": 8374 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.8200C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Gln2734Ter", "hgvsWellDefined": "XP_005248407.1:p.Gln2734_Leu3208delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "T", "end": 5165, "referenceAllele": "C", "start": 5164 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.4972C>T" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.Gln1658Ter", "hgvsWellDefined": "XP_005248410.1:p.Gln1658_Leu2132delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "T", "end": 8504, "referenceAllele": "C", "start": 8503 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.Gln2777Ter", "hgvsWellDefined": "XP_006714552.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "T", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.2:c.2902C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Gln968Ter", "hgvsWellDefined": "XP_006714554.1:p.Gln968_Leu1442delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070686" }, { "coordinates": [ { "allele": "T", "end": 8457, "referenceAllele": "C", "start": 8456 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512387.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "T", "end": 8547, "referenceAllele": "C", "start": 8546 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512388.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "T", "end": 8450, "referenceAllele": "C", "start": 8449 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.8275C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Gln2759Ter", "hgvsWellDefined": "XP_011512389.1:p.Gln2759_Leu3233delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "T", "end": 8396, "referenceAllele": "C", "start": 8395 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.8221C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Gln2741Ter", "hgvsWellDefined": "XP_011512390.1:p.Gln2741_Leu3215delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "T", "end": 8504, "referenceAllele": "C", "start": 8503 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512391.1:p.Gln2777_Tyr3199delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "T", "end": 8423, "referenceAllele": "C", "start": 8422 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Gln2671Ter", "hgvsWellDefined": "XP_011512392.1:p.Gln2671_Leu3145delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "T", "end": 7738, "referenceAllele": "C", "start": 7737 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.7657C>T" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.Gln2553Ter", "hgvsWellDefined": "XP_011512393.1:p.Gln2553_Leu3027delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "T", "end": 8505, "referenceAllele": "C", "start": 8504 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512394.1:p.Gln2777_Lys3023delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "T", "end": 5597, "referenceAllele": "C", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.5554C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Gln1852Ter", "hgvsWellDefined": "XP_011512396.1:p.Gln1852_Leu2326delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "T", "end": 8504, "referenceAllele": "C", "start": 8503 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.8504C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "T", "end": 8504, "referenceAllele": "C", "start": 8503 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.8504C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "T", "end": 8631, "referenceAllele": "C", "start": 8630 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Gln2777Ter", "hgvsWellDefined": "XP_005248402.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "T", "end": 8628, "referenceAllele": "C", "start": 8627 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.8326C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Gln2776Ter", "hgvsWellDefined": "XP_005248403.1:p.Gln2776_Leu3250delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "T", "end": 8628, "referenceAllele": "C", "start": 8627 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.8326C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Gln2776Ter", "hgvsWellDefined": "XP_005248404.1:p.Gln2776_Leu3250delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "T", "end": 8520, "referenceAllele": "C", "start": 8519 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.8218C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Gln2740Ter", "hgvsWellDefined": "XP_005248406.1:p.Gln2740_Leu3214delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "T", "end": 8502, "referenceAllele": "C", "start": 8501 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.8200C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Gln2734Ter", "hgvsWellDefined": "XP_005248407.1:p.Gln2734_Leu3208delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "T", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714491.3:c.2902C>T" ], "proteinEffect": { "hgvs": "XP_006714554.1:p.Gln968Ter", "hgvsWellDefined": "XP_006714554.1:p.Gln968_Leu1442delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538727" }, { "coordinates": [ { "allele": "T", "end": 8680, "referenceAllele": "C", "start": 8679 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512387.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "T", "end": 8566, "referenceAllele": "C", "start": 8565 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512388.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "T", "end": 8499, "referenceAllele": "C", "start": 8498 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.8275C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Gln2759Ter", "hgvsWellDefined": "XP_011512389.1:p.Gln2759_Leu3233delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "T", "end": 8445, "referenceAllele": "C", "start": 8444 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.8221C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Gln2741Ter", "hgvsWellDefined": "XP_011512390.1:p.Gln2741_Leu3215delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "T", "end": 8553, "referenceAllele": "C", "start": 8552 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512391.1:p.Gln2777_Tyr3199delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnGluAsnPheGlyProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "T", "end": 8441, "referenceAllele": "C", "start": 8440 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Gln2671Ter", "hgvsWellDefined": "XP_011512392.1:p.Gln2671_Leu3145delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "T", "end": 8553, "referenceAllele": "C", "start": 8552 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.8329C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Gln2777Ter", "hgvsWellDefined": "XP_011512394.1:p.Gln2777_Lys3023delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgAsnLeuMetAsnArgArgMetLeuGluValLeuLysLysGluAsnAlaLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "T", "end": 5602, "referenceAllele": "C", "start": 5601 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.5554C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Gln1852Ter", "hgvsWellDefined": "XP_011512396.1:p.Gln1852_Leu2326delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "T", "end": 8279, "referenceAllele": "C", "start": 8278 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.Gln2714Ter", "hgvsWellDefined": "XP_016865249.1:p.Gln2714_Leu3188delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "T", "end": 8306, "referenceAllele": "C", "start": 8305 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.Gln2714Ter", "hgvsWellDefined": "XP_016865250.1:p.Gln2714_Leu3188delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "T", "end": 7879, "referenceAllele": "C", "start": 7878 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.7336C>T" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.Gln2446Ter", "hgvsWellDefined": "XP_016865252.1:p.Gln2446_Leu2920delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "T", "end": 8248, "referenceAllele": "C", "start": 8247 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.7141C>T" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.Gln2381Ter", "hgvsWellDefined": "XP_016865254.1:p.Gln2381_Leu2855delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "T", "end": 5730, "referenceAllele": "C", "start": 5729 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.4972C>T" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.Gln1658Ter", "hgvsWellDefined": "XP_016865255.1:p.Gln1658_Leu2132delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "T", "end": 8544, "referenceAllele": "C", "start": 8543 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.Gln2714Ter", "hgvsWellDefined": "XP_024301951.1:p.Gln2714_Leu3188delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "T", "end": 8484, "referenceAllele": "C", "start": 8483 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.Gln2671Ter", "hgvsWellDefined": "XP_024301952.1:p.Gln2671_Leu3145delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "T", "end": 8377, "referenceAllele": "C", "start": 8376 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.7657C>T" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.Gln2553Ter", "hgvsWellDefined": "XP_024301953.1:p.Gln2553_Leu3027delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "T", "end": 8527, "referenceAllele": "C", "start": 8526 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.7336C>T" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.Gln2446Ter", "hgvsWellDefined": "XP_024301954.1:p.Gln2446_Leu2920delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "T", "end": 8498, "referenceAllele": "C", "start": 8497 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.8498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "T", "end": 8444, "referenceAllele": "C", "start": 8443 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.8444C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "T", "end": 8553, "referenceAllele": "C", "start": 8552 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.8553C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2573077429", "coordinates": [ { "allele": "T", "end": 8508, "referenceAllele": "C", "start": 8507 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.8329C>T" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.Gln2777Ter", "hgvsWellDefined": "NP_001371661.1:p.Gln2777_Leu3251delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.8329C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.8329C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Gln2777Ter" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Gln2777Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA279446", "coordinates": [ { "allele": "T", "end": 8346, "referenceAllele": "C", "start": 8345 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.8167C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Gln2723Ter", "hgvsWellDefined": "NP_075561.3:p.Gln2723_Leu3197delinsAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProGlyMetAsnSerSerAspGluLeuCysGluSerValSerValHisProLeuGlnMetThrGlyLeuThrAspIleAlaAspIleIleAspAspLeuIleIleLysAspGlyValSerSerGluGluLeuGlyLeuThrGluGlnAlaMetGlyThrSerArgIleGlnHisTyrSerGlyArgHisSerGlnArgThrAspLysGluArgArgGluIleGlnAlaTrpMetLysArgLysArgLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }