{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041358", "communityStandardTitle": [ "NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357844[alleleid]", "alleleId": 357844, "preferredName": "NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370419", "RCV": [ "RCV000409923", "RCV002524620", "RCV003475946" ], "variationId": 370419 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.55587293A>T?assembly=hg19", "id": "chr10:g.55587293A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.53827533A>T?assembly=hg38", "id": "chr10:g.53827533A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516472", "rs": 1057516472 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-53827533-A-T?dataset=gnomad_r4", "id": "10-53827533-A-T", "variant": "10:53827533 A / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 53827533, "referenceAllele": "A", "start": 53827532 } ], "hgvs": [ "NC_000010.11:g.53827533A>T", "CM000672.2:g.53827533A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 55587293, "referenceAllele": "A", "start": 55587292 } ], "hgvs": [ "NC_000010.10:g.55587293A>T", "CM000672.1:g.55587293A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 55257299, "referenceAllele": "A", "start": 55257298 } ], "hgvs": [ "NC_000010.9:g.55257299A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 978759, "referenceAllele": "T", "start": 978758 } ], "hgvs": [ "NG_009191.2:g.978759T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001470" }, { "coordinates": [ { "allele": "A", "end": 1806650, "referenceAllele": "T", "start": 1806649 } ], "hgvs": [ "NG_009191.3:g.1806650T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616124" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4598, "referenceAllele": "T", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.6:c.4263T>A" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Cys1421Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906246" }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000320301.11:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000322604.6:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000322604.6:p.Cys1409_Leu1955delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320301.11:c.4227T>A" }, "RefSeq": { "hgvs": "NM_033056.4:c.4227T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322604.6:p.Cys1409Ter" }, "RefSeq": { "hgvs": "NP_149045.3:p.Cys1409Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "T", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395445.6:c.4248T>A" ], "proteinEffect": { "hgvs": "ENSP00000378832.2:p.Cys1416Ter", "hgvsWellDefined": "ENSP00000378832.2:p.Cys1416_Leu1783delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824492" }, { "coordinates": [ { "allele": "A", "end": 4598, "referenceAllele": "T", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.5:c.4263T>A" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Cys1421Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826440" }, { "coordinates": [ { "allele": "A", "end": 3086, "referenceAllele": "T", "start": 3085 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000642496.1:c.3086T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766775" }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000644397.2:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000495195.1:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000495195.1:p.Cys1409_Leu1740delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleTrpSerPheCysTrpGlnLeuValIleCysMetArgThrCysAlaIleTrpArgThrLeuThrArgArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767798", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644397.2:c.4227T>A" }, "RefSeq": { "hgvs": "NM_001384140.1:c.4227T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495195.1:p.Cys1409Ter" }, "RefSeq": { "hgvs": "NP_001371069.1:p.Cys1409Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000320301.10:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000322604.6:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000322604.6:p.Cys1409_Leu1955delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257786" }, { "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000361849.7:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000354950.3:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000354950.3:p.Cys1409_Leu1957delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265685" }, { "coordinates": [ { "allele": "A", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373956.7:c.*2182T>A" ], "proteinEffect": { "hgvs": "ENSP00000363067.4:n.*2182T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS269984" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "T", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373957.7:c.4242T>A" ], "proteinEffect": { "hgvs": "ENSP00000363068.4:p.Cys1414Ter", "hgvsWellDefined": "ENSP00000363068.4:p.Cys1414_Leu1962delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269985" }, { "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373965.6:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000363076.3:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000363076.3:p.Cys1409_Leu1677delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269989" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "T", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395430.5:c.4218T>A" ], "proteinEffect": { "hgvs": "ENSP00000378818.1:p.Cys1406Ter", "hgvsWellDefined": "ENSP00000378818.1:p.Cys1406_Leu1952delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276682" }, { "coordinates": [ { "allele": "A", "end": 4502, "referenceAllele": "T", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395432.6:c.4107T>A" ], "proteinEffect": { "hgvs": "ENSP00000378820.2:p.Cys1369Ter", "hgvsWellDefined": "ENSP00000378820.2:p.Cys1369_Leu1915delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276683" }, { "coordinates": [ { "allele": "A", "end": 4547, "referenceAllele": "T", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395433.5:c.4152T>A" ], "proteinEffect": { "hgvs": "ENSP00000378821.1:p.Cys1384Ter", "hgvsWellDefined": "ENSP00000378821.1:p.Cys1384_Leu1932delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276684" }, { "coordinates": [ { "allele": "A", "end": 4625, "referenceAllele": "T", "start": 4624 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395438.5:c.4230T>A" ], "proteinEffect": { "hgvs": "ENSP00000378826.2:p.Cys1410Ter", "hgvsWellDefined": "ENSP00000378826.2:p.Cys1410_Lys1540delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetAsnArgAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276687" }, { "coordinates": [ { "allele": "A", "end": 1700, "endIntronDirection": "-", "endIntronOffset": 17986, "referenceAllele": "T", "start": 1700, "startIntronDirection": "-", "startIntronOffset": 17987 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395440.5:c.1306-17987T>A" ], "proteinEffect": { "hgvs": "ENSP00000378827.1:n.1306-17987T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276689" }, { "coordinates": [ { "allele": "A", "end": 1493, "endIntronDirection": "-", "endIntronOffset": 17986, "referenceAllele": "T", "start": 1493, "startIntronDirection": "-", "startIntronOffset": 17987 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395442.5:c.1099-17987T>A" ], "proteinEffect": { "hgvs": "ENSP00000378829.1:n.1099-17987T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276690" }, { "coordinates": [ { "allele": "A", "end": 4643, "referenceAllele": "T", "start": 4642 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395445.5:c.4248T>A" ], "proteinEffect": { "hgvs": "ENSP00000378832.2:p.Cys1416Ter", "hgvsWellDefined": "ENSP00000378832.2:p.Cys1416_Leu1783delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276692" }, { "coordinates": [ { "allele": "A", "end": 2486, "endIntronDirection": "-", "endIntronOffset": 17986, "referenceAllele": "T", "start": 2486, "startIntronDirection": "-", "startIntronOffset": 17987 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395446.5:c.2092-17987T>A" ], "proteinEffect": { "hgvs": "ENSP00000378833.1:n.2092-17987T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276693" }, { "coordinates": [ { "allele": "A", "end": 3636, "referenceAllele": "T", "start": 3635 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000409834.5:c.3060T>A" ], "proteinEffect": { "hgvs": "ENSP00000386693.1:p.Cys1020Ter", "hgvsWellDefined": "ENSP00000386693.1:p.Cys1020_Lys1150delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281889" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "T", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000414367.5:c.*307T>A" ], "proteinEffect": { "hgvs": "ENSP00000412531.1:n.*307T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS283498" }, { "coordinates": [ { "allele": "A", "end": 4625, "referenceAllele": "T", "start": 4624 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000414778.5:c.4230T>A" ], "proteinEffect": { "hgvs": "ENSP00000410304.2:p.Cys1410Ter", "hgvsWellDefined": "ENSP00000410304.2:p.Cys1410_Leu1676delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283681" }, { "coordinates": [ { "allele": "A", "end": 4409, "referenceAllele": "T", "start": 4408 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000437009.5:c.4014T>A" ], "proteinEffect": { "hgvs": "ENSP00000412628.2:p.Cys1338Ter", "hgvsWellDefined": "ENSP00000412628.2:p.Cys1338_Leu1886delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294256" }, { "coordinates": [ { "allele": "A", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000448885.5:c.*2182T>A" ], "proteinEffect": { "hgvs": "ENSP00000412320.1:n.*2182T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS299940" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000463095.2:n.1246T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307210" }, { "coordinates": [ { "allele": "A", "end": 852, "endIntronDirection": "+", "endIntronOffset": 3782, "referenceAllele": "T", "start": 852, "startIntronDirection": "+", "startIntronOffset": 3781 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000495484.5:c.461+3782T>A" ], "proteinEffect": { "hgvs": "ENSP00000480780.1:n.461+3782T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS332173" }, { "coordinates": [ { "allele": "A", "end": 4661, "referenceAllele": "T", "start": 4660 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000612394.4:c.4266T>A" ], "proteinEffect": { "hgvs": "ENSP00000482921.1:p.Cys1422Ter", "hgvsWellDefined": "ENSP00000482921.1:p.Cys1422_Leu1789delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401288" }, { "coordinates": [ { "allele": "A", "end": 4658, "referenceAllele": "T", "start": 4657 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.4:c.4263T>A" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Cys1421Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401842" }, { "coordinates": [ { "allele": "A", "end": 4640, "referenceAllele": "T", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000614895.4:c.4245T>A" ], "proteinEffect": { "hgvs": "ENSP00000478512.1:p.Cys1415Ter", "hgvsWellDefined": "ENSP00000478512.1:p.Cys1415_Leu1681delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402396" }, { "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000616114.4:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000483745.1:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000483745.1:p.Cys1409_Leu1675delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402916" }, { "coordinates": [ { "allele": "A", "end": 4640, "referenceAllele": "T", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000617051.4:c.4245T>A" ], "proteinEffect": { "hgvs": "ENSP00000484703.1:p.Cys1415Ter", "hgvsWellDefined": "ENSP00000484703.1:p.Cys1415_Leu1964delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuSerSerLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403320" }, { "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000617271.4:c.4227T>A" ], "proteinEffect": { "hgvs": "ENSP00000478076.1:p.Cys1409Ter", "hgvsWellDefined": "ENSP00000478076.1:p.Cys1409_Lys1539delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403412" }, { "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "T", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000618301.4:c.453T>A" ], "proteinEffect": { "hgvs": "ENSP00000482780.1:p.Cys151Ter", "hgvsWellDefined": "ENSP00000482780.1:p.Cys151_Leu460delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403875" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "T", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000621708.4:c.4242T>A" ], "proteinEffect": { "hgvs": "ENSP00000484454.1:p.Cys1414Ter", "hgvsWellDefined": "ENSP00000484454.1:p.Cys1414_Leu1682delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405395" }, { "coordinates": [ { "allele": "A", "end": 4412, "referenceAllele": "T", "start": 4411 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000622048.4:c.4017T>A" ], "proteinEffect": { "hgvs": "ENSP00000482329.1:p.Cys1339Ter", "hgvsWellDefined": "ENSP00000482329.1:p.Cys1339_Leu1888delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuSerSerLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405538" }, { "@id": "http://reg.genome.network/allele/PA2825814532", "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "T", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142763.1:c.4242T>A" ], "proteinEffect": { "hgvs": "NP_001136235.1:p.Cys1414Ter", "hgvsWellDefined": "NP_001136235.1:p.Cys1414_Leu1962delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013052" }, { "@id": "http://reg.genome.network/allele/PA2825817976", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142764.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136236.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136236.1:p.Cys1409_Leu1957delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013053" }, { "@id": "http://reg.genome.network/allele/PA2825821654", "coordinates": [ { "allele": "A", "end": 4409, "referenceAllele": "T", "start": 4408 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142765.1:c.4014T>A" ], "proteinEffect": { "hgvs": "NP_001136237.1:p.Cys1338Ter", "hgvsWellDefined": "NP_001136237.1:p.Cys1338_Leu1886delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013054" }, { "@id": "http://reg.genome.network/allele/PA2825825096", "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "T", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142766.1:c.4218T>A" ], "proteinEffect": { "hgvs": "NP_001136238.1:p.Cys1406Ter", "hgvsWellDefined": "NP_001136238.1:p.Cys1406_Leu1952delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013055" }, { "@id": "http://reg.genome.network/allele/PA2825828523", "coordinates": [ { "allele": "A", "end": 4502, "referenceAllele": "T", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142767.1:c.4107T>A" ], "proteinEffect": { "hgvs": "NP_001136239.1:p.Cys1369Ter", "hgvsWellDefined": "NP_001136239.1:p.Cys1369_Leu1915delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013056" }, { "@id": "http://reg.genome.network/allele/PA2825832065", "coordinates": [ { "allele": "A", "end": 4556, "referenceAllele": "T", "start": 4555 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142768.1:c.4161T>A" ], "proteinEffect": { "hgvs": "NP_001136240.1:p.Cys1387Ter", "hgvsWellDefined": "NP_001136240.1:p.Cys1387_Leu1935delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013057" }, { "@id": "http://reg.genome.network/allele/PA915980292", "coordinates": [ { "allele": "A", "end": 4658, "referenceAllele": "T", "start": 4657 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.1:c.4263T>A" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Cys1421Ter", "hgvsWellDefined": "NP_001136241.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013058" }, { "@id": "http://reg.genome.network/allele/PA2825837891", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136242.1:p.Cys1409_Lys1539delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013059" }, { "@id": "http://reg.genome.network/allele/PA2825840475", "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "T", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142771.1:c.4242T>A" ], "proteinEffect": { "hgvs": "NP_001136243.1:p.Cys1414Ter", "hgvsWellDefined": "NP_001136243.1:p.Cys1414_Leu1682delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013060" }, { "@id": "http://reg.genome.network/allele/PA2825842438", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142772.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136244.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136244.1:p.Cys1409_Leu1677delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013061" }, { "@id": "http://reg.genome.network/allele/PA2825847842", "coordinates": [ { "allele": "A", "end": 4547, "referenceAllele": "T", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142773.1:c.4152T>A" ], "proteinEffect": { "hgvs": "NP_001136245.1:p.Cys1384Ter", "hgvsWellDefined": "NP_001136245.1:p.Cys1384_Leu1932delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013062" }, { "@id": "http://reg.genome.network/allele/PA645427108", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_033056.3:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_149045.3:p.Cys1409Ter", "hgvsWellDefined": "NP_149045.3:p.Cys1409_Leu1955delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039496" }, { "@id": "http://reg.genome.network/allele/PA915980292", "coordinates": [ { "allele": "A", "end": 4658, "referenceAllele": "T", "start": 4657 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.2:c.4263T>A" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Cys1421Ter", "hgvsWellDefined": "NP_001136241.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511559" }, { "@id": "http://reg.genome.network/allele/PA2825837891", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.2:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136242.1:p.Cys1409_Lys1539delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511560" }, { "@id": "http://reg.genome.network/allele/PA2827851121", "coordinates": [ { "allele": "A", "end": 4523, "referenceAllele": "T", "start": 4522 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354404.1:c.4161T>A" ], "proteinEffect": { "hgvs": "NP_001341333.1:p.Cys1387Ter", "hgvsWellDefined": "NP_001341333.1:p.Cys1387_Leu1933delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522388" }, { "@id": "http://reg.genome.network/allele/PA2827853072", "coordinates": [ { "allele": "A", "end": 4643, "referenceAllele": "T", "start": 4642 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354411.1:c.4248T>A" ], "proteinEffect": { "hgvs": "NP_001341340.1:p.Cys1416Ter", "hgvsWellDefined": "NP_001341340.1:p.Cys1416_Leu1783delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522395" }, { "@id": "http://reg.genome.network/allele/PA2827854581", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354420.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001341349.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001341349.1:p.Cys1409_Leu1675delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522403" }, { "@id": "http://reg.genome.network/allele/PA2827855578", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354429.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001341358.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001341358.1:p.Cys1409_Leu1718delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522412" }, { "coordinates": [ { "allele": "A", "end": 8019, "referenceAllele": "T", "start": 8018 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XM_017016573.2:c.4242T>A" ], "proteinEffect": { "hgvs": "XP_016872062.1:p.Cys1414Ter", "hgvsWellDefined": "XP_016872062.1:p.Cys1414_Leu1783delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568982" }, { "coordinates": [ { "allele": "A", "end": 5240, "referenceAllele": "T", "start": 5239 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XR_001747192.2:n.5240T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595382" }, { "coordinates": [ { "allele": "A", "end": 5231, "referenceAllele": "T", "start": 5230 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XR_001747193.2:n.5231T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595383" }, { "@id": "http://reg.genome.network/allele/PA2825814532", "coordinates": [ { "allele": "A", "end": 4577, "referenceAllele": "T", "start": 4576 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142763.2:c.4242T>A" ], "proteinEffect": { "hgvs": "NP_001136235.1:p.Cys1414Ter", "hgvsWellDefined": "NP_001136235.1:p.Cys1414_Leu1962delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677614" }, { "@id": "http://reg.genome.network/allele/PA2825817976", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142764.2:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136236.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136236.1:p.Cys1409_Leu1957delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677615" }, { "@id": "http://reg.genome.network/allele/PA2825821654", "coordinates": [ { "allele": "A", "end": 4349, "referenceAllele": "T", "start": 4348 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142765.2:c.4014T>A" ], "proteinEffect": { "hgvs": "NP_001136237.1:p.Cys1338Ter", "hgvsWellDefined": "NP_001136237.1:p.Cys1338_Leu1886delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677616" }, { "@id": "http://reg.genome.network/allele/PA2825825096", "coordinates": [ { "allele": "A", "end": 4553, "referenceAllele": "T", "start": 4552 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142766.2:c.4218T>A" ], "proteinEffect": { "hgvs": "NP_001136238.1:p.Cys1406Ter", "hgvsWellDefined": "NP_001136238.1:p.Cys1406_Leu1952delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677617" }, { "@id": "http://reg.genome.network/allele/PA2825832065", "coordinates": [ { "allele": "A", "end": 4496, "referenceAllele": "T", "start": 4495 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142768.2:c.4161T>A" ], "proteinEffect": { "hgvs": "NP_001136240.1:p.Cys1387Ter", "hgvsWellDefined": "NP_001136240.1:p.Cys1387_Leu1935delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677618" }, { "@id": "http://reg.genome.network/allele/PA915980292", "coordinates": [ { "allele": "A", "end": 4598, "referenceAllele": "T", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.3:c.4263T>A" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Cys1421Ter", "hgvsWellDefined": "NP_001136241.1:p.Cys1421_Leu1790delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677619" }, { "@id": "http://reg.genome.network/allele/PA2825837891", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.3:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136242.1:p.Cys1409_Lys1539delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677620" }, { "@id": "http://reg.genome.network/allele/PA2825840475", "coordinates": [ { "allele": "A", "end": 4577, "referenceAllele": "T", "start": 4576 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142771.2:c.4242T>A" ], "proteinEffect": { "hgvs": "NP_001136243.1:p.Cys1414Ter", "hgvsWellDefined": "NP_001136243.1:p.Cys1414_Leu1682delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677621" }, { "@id": "http://reg.genome.network/allele/PA2825842438", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142772.2:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001136244.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001136244.1:p.Cys1409_Leu1677delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677622" }, { "@id": "http://reg.genome.network/allele/PA2825847842", "coordinates": [ { "allele": "A", "end": 4487, "referenceAllele": "T", "start": 4486 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142773.2:c.4152T>A" ], "proteinEffect": { "hgvs": "NP_001136245.1:p.Cys1384Ter", "hgvsWellDefined": "NP_001136245.1:p.Cys1384_Leu1932delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677623" }, { "@id": "http://reg.genome.network/allele/PA2827853072", "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "T", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354411.2:c.4248T>A" ], "proteinEffect": { "hgvs": "NP_001341340.1:p.Cys1416Ter", "hgvsWellDefined": "NP_001341340.1:p.Cys1416_Leu1783delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690159" }, { "@id": "http://reg.genome.network/allele/PA2827854581", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354420.2:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001341349.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001341349.1:p.Cys1409_Leu1675delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690167" }, { "@id": "http://reg.genome.network/allele/PA2827855578", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354429.2:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001341358.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001341358.1:p.Cys1409_Leu1718delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690175" }, { "@id": "http://reg.genome.network/allele/PA645427108", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_033056.4:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_149045.3:p.Cys1409Ter", "hgvsWellDefined": "NP_149045.3:p.Cys1409_Leu1955delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699254", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320301.11:c.4227T>A" }, "RefSeq": { "hgvs": "NM_033056.4:c.4227T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322604.6:p.Cys1409Ter" }, "RefSeq": { "hgvs": "NP_149045.3:p.Cys1409Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825828523", "coordinates": [ { "allele": "A", "end": 4442, "referenceAllele": "T", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142767.2:c.4107T>A" ], "proteinEffect": { "hgvs": "NP_001136239.1:p.Cys1369Ter", "hgvsWellDefined": "NP_001136239.1:p.Cys1369_Leu1915delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712623" }, { "@id": "http://reg.genome.network/allele/PA2827851121", "coordinates": [ { "allele": "A", "end": 4523, "referenceAllele": "T", "start": 4522 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354404.2:c.4161T>A" ], "proteinEffect": { "hgvs": "NP_001341333.1:p.Cys1387Ter", "hgvsWellDefined": "NP_001341333.1:p.Cys1387_Leu1933delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720458" }, { "@id": "http://reg.genome.network/allele/PA2828936180", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001384140.1:c.4227T>A" ], "proteinEffect": { "hgvs": "NP_001371069.1:p.Cys1409Ter", "hgvsWellDefined": "NP_001371069.1:p.Cys1409_Leu1740delinsThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleTrpSerPheCysTrpGlnLeuValIleCysMetArgThrCysAlaIleTrpArgThrLeuThrArgArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722667", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644397.2:c.4227T>A" }, "RefSeq": { "hgvs": "NM_001384140.1:c.4227T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495195.1:p.Cys1409Ter" }, "RefSeq": { "hgvs": "NP_001371069.1:p.Cys1409Ter" } } } } ], "type": "nucleotide" }