{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA261844", "communityStandardTitle": [ "NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1702435", "active": true, "id": "COSM1702435" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1702436", "active": true, "id": "COSM1702436" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1702437", "active": true, "id": "COSM1702437" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1702438", "active": true, "id": "COSM1702438" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55629[alleleid]", "alleleId": 55629, "preferredName": "NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46464", "RCV": [ "RCV000039723", "RCV000515240", "RCV000824731", "RCV001386496", "RCV003389450", "RCV003473289" ], "variationId": 46464 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-55698632-G-A", "id": "10-55698632-G-A", "variant": "10:55698632 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.55698632G>A?assembly=hg19", "id": "chr10:g.55698632G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.53938872G>A?assembly=hg38", "id": "chr10:g.53938872G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/202033121", "rs": 202033121 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-55698632-G-A?dataset=gnomad_r2_1", "id": "10-55698632-G-A", "variant": "10:55698632 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-53938872-G-A?dataset=gnomad_r4", "id": "10-53938872-G-A", "variant": "10:53938872 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 53938872, "referenceAllele": "G", "start": 53938871 } ], "hgvs": [ "NC_000010.11:g.53938872G>A", "CM000672.2:g.53938872G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 55698632, "referenceAllele": "G", "start": 55698631 } ], "hgvs": [ "NC_000010.10:g.55698632G>A", "CM000672.1:g.55698632G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 55368638, "referenceAllele": "G", "start": 55368637 } ], "hgvs": [ "NC_000010.9:g.55368638G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 867420, "referenceAllele": "C", "start": 867419 } ], "hgvs": [ "NG_009191.2:g.867420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001470" }, { "coordinates": [ { "allele": "T", "end": 1695311, "referenceAllele": "C", "start": 1695310 } ], "hgvs": [ "NG_009191.3:g.1695311C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616124" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.6:c.3352C>T" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Arg1118Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906246" }, { "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000320301.11:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000322604.6:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000322604.6:p.Arg1106_Leu1955delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320301.11:c.3316C>T" }, "RefSeq": { "hgvs": "NM_033056.4:c.3316C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322604.6:p.Arg1106Ter" }, "RefSeq": { "hgvs": "NP_149045.3:p.Arg1106Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3672, "referenceAllele": "C", "start": 3671 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395445.6:c.3337C>T" ], "proteinEffect": { "hgvs": "ENSP00000378832.2:p.Arg1113Ter", "hgvsWellDefined": "ENSP00000378832.2:p.Arg1113_Leu1783delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824492" }, { "coordinates": [ { "allele": "T", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.5:c.3352C>T" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Arg1118Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826440" }, { "coordinates": [ { "allele": "T", "end": 2175, "referenceAllele": "C", "start": 2174 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000642496.1:c.2175C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766775" }, { "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000644397.2:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000495195.1:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000495195.1:p.Arg1106_Leu1740delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleTrpSerPheCysTrpGlnLeuValIleCysMetArgThrCysAlaIleTrpArgThrLeuThrArgArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767798", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644397.2:c.3316C>T" }, "RefSeq": { "hgvs": "NM_001384140.1:c.3316C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495195.1:p.Arg1106Ter" }, "RefSeq": { "hgvs": "NP_001371069.1:p.Arg1106Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000320301.10:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000322604.6:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000322604.6:p.Arg1106_Leu1955delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257786" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000361849.7:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000354950.3:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000354950.3:p.Arg1106_Leu1957delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265685" }, { "coordinates": [ { "allele": "T", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373956.7:c.*1271C>T" ], "proteinEffect": { "hgvs": "ENSP00000363067.4:n.*1271C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS269984" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373957.7:c.3331C>T" ], "proteinEffect": { "hgvs": "ENSP00000363068.4:p.Arg1111Ter", "hgvsWellDefined": "ENSP00000363068.4:p.Arg1111_Leu1962delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269985" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000373965.6:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000363076.3:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000363076.3:p.Arg1106_Leu1677delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269989" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395430.5:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000378818.1:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000378818.1:p.Arg1106_Leu1952delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276682" }, { "coordinates": [ { "allele": "T", "end": 3600, "referenceAllele": "C", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395432.6:c.3205C>T" ], "proteinEffect": { "hgvs": "ENSP00000378820.2:p.Arg1069Ter", "hgvsWellDefined": "ENSP00000378820.2:p.Arg1069_Leu1915delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276683" }, { "coordinates": [ { "allele": "T", "end": 3645, "referenceAllele": "C", "start": 3644 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395433.5:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000378821.1:p.Arg1084Ter", "hgvsWellDefined": "ENSP00000378821.1:p.Arg1084_Leu1932delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276684" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395438.5:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000378826.2:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000378826.2:p.Arg1106_Lys1540delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetAsnArgAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276687" }, { "coordinates": [ { "allele": "T", "end": 1700, "endIntronDirection": "-", "endIntronOffset": 129325, "referenceAllele": "C", "start": 1700, "startIntronDirection": "-", "startIntronOffset": 129326 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395440.5:c.1306-129326C>T" ], "proteinEffect": { "hgvs": "ENSP00000378827.1:n.1306-129326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276689" }, { "coordinates": [ { "allele": "T", "end": 1493, "endIntronDirection": "-", "endIntronOffset": 129325, "referenceAllele": "C", "start": 1493, "startIntronDirection": "-", "startIntronOffset": 129326 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395442.5:c.1099-129326C>T" ], "proteinEffect": { "hgvs": "ENSP00000378829.1:n.1099-129326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276690" }, { "coordinates": [ { "allele": "T", "end": 3732, "referenceAllele": "C", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395445.5:c.3337C>T" ], "proteinEffect": { "hgvs": "ENSP00000378832.2:p.Arg1113Ter", "hgvsWellDefined": "ENSP00000378832.2:p.Arg1113_Leu1783delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276692" }, { "coordinates": [ { "allele": "T", "end": 2486, "endIntronDirection": "-", "endIntronOffset": 129325, "referenceAllele": "C", "start": 2486, "startIntronDirection": "-", "startIntronOffset": 129326 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000395446.5:c.2092-129326C>T" ], "proteinEffect": { "hgvs": "ENSP00000378833.1:n.2092-129326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276693" }, { "coordinates": [ { "allele": "T", "end": 2725, "referenceAllele": "C", "start": 2724 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000409834.5:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000386693.1:p.Arg717Ter", "hgvsWellDefined": "ENSP00000386693.1:p.Arg717_Lys1150delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281889" }, { "coordinates": [ { "allele": "T", "end": 1271, "endIntronDirection": "-", "endIntronOffset": 98375, "referenceAllele": "C", "start": 1271, "startIntronDirection": "-", "startIntronOffset": 98376 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000414367.5:c.877-98376C>T" ], "proteinEffect": { "hgvs": "ENSP00000412531.1:n.877-98376C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS283498" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000414778.5:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000410304.2:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000410304.2:p.Arg1106_Leu1676delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283681" }, { "coordinates": [ { "allele": "T", "end": 3498, "referenceAllele": "C", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000437009.5:c.3103C>T" ], "proteinEffect": { "hgvs": "ENSP00000412628.2:p.Arg1035Ter", "hgvsWellDefined": "ENSP00000412628.2:p.Arg1035_Leu1886delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294256" }, { "coordinates": [ { "allele": "T", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000448885.5:c.*1271C>T" ], "proteinEffect": { "hgvs": "ENSP00000412320.1:n.*1271C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS299940" }, { "coordinates": [ { "allele": "T", "end": 367, "endIntronDirection": "-", "endIntronOffset": 81608, "referenceAllele": "C", "start": 367, "startIntronDirection": "-", "startIntronOffset": 81609 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000495484.5:c.-24-81609C>T" ], "proteinEffect": { "hgvs": "ENSP00000480780.1:n.-24-81609C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332173" }, { "coordinates": [ { "allele": "T", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000612394.4:c.3352C>T" ], "proteinEffect": { "hgvs": "ENSP00000482921.1:p.Arg1118Ter", "hgvsWellDefined": "ENSP00000482921.1:p.Arg1118_Leu1789delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401288" }, { "coordinates": [ { "allele": "T", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000613657.4:c.3352C>T" ], "proteinEffect": { "hgvs": "ENSP00000482794.1:p.Arg1118Ter", "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401842" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000614895.4:c.3331C>T" ], "proteinEffect": { "hgvs": "ENSP00000478512.1:p.Arg1111Ter", "hgvsWellDefined": "ENSP00000478512.1:p.Arg1111_Leu1681delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402396" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000616114.4:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000483745.1:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000483745.1:p.Arg1106_Leu1675delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402916" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000617051.4:c.3331C>T" ], "proteinEffect": { "hgvs": "ENSP00000484703.1:p.Arg1111Ter", "hgvsWellDefined": "ENSP00000484703.1:p.Arg1111_Leu1964delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuSerSerLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403320" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000617271.4:c.3316C>T" ], "proteinEffect": { "hgvs": "ENSP00000478076.1:p.Arg1106Ter", "hgvsWellDefined": "ENSP00000478076.1:p.Arg1106_Lys1539delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403412" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000621708.4:c.3331C>T" ], "proteinEffect": { "hgvs": "ENSP00000484454.1:p.Arg1111Ter", "hgvsWellDefined": "ENSP00000484454.1:p.Arg1111_Leu1682delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405395" }, { "coordinates": [ { "allele": "T", "end": 3498, "referenceAllele": "C", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "ENST00000622048.4:c.3103C>T" ], "proteinEffect": { "hgvs": "ENSP00000482329.1:p.Arg1035Ter", "hgvsWellDefined": "ENSP00000482329.1:p.Arg1035_Leu1888delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnValPheLysGlyArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuSerSerLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405538" }, { "@id": "http://reg.genome.network/allele/PA2825813981", "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142763.1:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_001136235.1:p.Arg1111Ter", "hgvsWellDefined": "NP_001136235.1:p.Arg1111_Leu1962delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013052" }, { "@id": "http://reg.genome.network/allele/PA2825817383", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142764.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136236.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136236.1:p.Arg1106_Leu1957delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013053" }, { "@id": "http://reg.genome.network/allele/PA2825821117", "coordinates": [ { "allele": "T", "end": 3498, "referenceAllele": "C", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142765.1:c.3103C>T" ], "proteinEffect": { "hgvs": "NP_001136237.1:p.Arg1035Ter", "hgvsWellDefined": "NP_001136237.1:p.Arg1035_Leu1886delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013054" }, { "@id": "http://reg.genome.network/allele/PA2825824565", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142766.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136238.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136238.1:p.Arg1106_Leu1952delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013055" }, { "@id": "http://reg.genome.network/allele/PA2825827966", "coordinates": [ { "allele": "T", "end": 3600, "referenceAllele": "C", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142767.1:c.3205C>T" ], "proteinEffect": { "hgvs": "NP_001136239.1:p.Arg1069Ter", "hgvsWellDefined": "NP_001136239.1:p.Arg1069_Leu1915delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013056" }, { "@id": "http://reg.genome.network/allele/PA2825831572", "coordinates": [ { "allele": "T", "end": 3645, "referenceAllele": "C", "start": 3644 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142768.1:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001136240.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001136240.1:p.Arg1084_Leu1935delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013057" }, { "@id": "http://reg.genome.network/allele/PA915980214", "coordinates": [ { "allele": "T", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.1:c.3352C>T" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Arg1118Ter", "hgvsWellDefined": "NP_001136241.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013058" }, { "@id": "http://reg.genome.network/allele/PA2825837414", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136242.1:p.Arg1106_Lys1539delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013059" }, { "@id": "http://reg.genome.network/allele/PA2825839928", "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142771.1:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_001136243.1:p.Arg1111Ter", "hgvsWellDefined": "NP_001136243.1:p.Arg1111_Leu1682delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013060" }, { "@id": "http://reg.genome.network/allele/PA2825842065", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142772.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136244.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136244.1:p.Arg1106_Leu1677delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013061" }, { "@id": "http://reg.genome.network/allele/PA2825847577", "coordinates": [ { "allele": "T", "end": 3645, "referenceAllele": "C", "start": 3644 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142773.1:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001136245.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001136245.1:p.Arg1084_Leu1932delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013062" }, { "@id": "http://reg.genome.network/allele/PA261845", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_033056.3:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_149045.3:p.Arg1106Ter", "hgvsWellDefined": "NP_149045.3:p.Arg1106_Leu1955delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039496" }, { "@id": "http://reg.genome.network/allele/PA915980214", "coordinates": [ { "allele": "T", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.2:c.3352C>T" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Arg1118Ter", "hgvsWellDefined": "NP_001136241.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511559" }, { "@id": "http://reg.genome.network/allele/PA2825837414", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136242.1:p.Arg1106_Lys1539delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511560" }, { "@id": "http://reg.genome.network/allele/PA2827850849", "coordinates": [ { "allele": "T", "end": 3612, "referenceAllele": "C", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354404.1:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001341333.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001341333.1:p.Arg1084_Leu1933delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522388" }, { "@id": "http://reg.genome.network/allele/PA2827852800", "coordinates": [ { "allele": "T", "end": 3732, "referenceAllele": "C", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354411.1:c.3337C>T" ], "proteinEffect": { "hgvs": "NP_001341340.1:p.Arg1113Ter", "hgvsWellDefined": "NP_001341340.1:p.Arg1113_Leu1783delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522395" }, { "@id": "http://reg.genome.network/allele/PA2827854312", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354420.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001341349.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001341349.1:p.Arg1106_Leu1675delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522403" }, { "@id": "http://reg.genome.network/allele/PA2827855379", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354429.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001341358.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001341358.1:p.Arg1106_Leu1718delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522412" }, { "coordinates": [ { "allele": "T", "end": 7108, "referenceAllele": "C", "start": 7107 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XM_017016573.2:c.3331C>T" ], "proteinEffect": { "hgvs": "XP_016872062.1:p.Arg1111Ter", "hgvsWellDefined": "XP_016872062.1:p.Arg1111_Leu1783delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568982" }, { "coordinates": [ { "allele": "T", "end": 4329, "referenceAllele": "C", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XR_001747192.2:n.4329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595382" }, { "coordinates": [ { "allele": "T", "end": 4329, "referenceAllele": "C", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "XR_001747193.2:n.4329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595383" }, { "@id": "http://reg.genome.network/allele/PA2825813981", "coordinates": [ { "allele": "T", "end": 3666, "referenceAllele": "C", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142763.2:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_001136235.1:p.Arg1111Ter", "hgvsWellDefined": "NP_001136235.1:p.Arg1111_Leu1962delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677614" }, { "@id": "http://reg.genome.network/allele/PA2825817383", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142764.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136236.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136236.1:p.Arg1106_Leu1957delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677615" }, { "@id": "http://reg.genome.network/allele/PA2825821117", "coordinates": [ { "allele": "T", "end": 3438, "referenceAllele": "C", "start": 3437 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142765.2:c.3103C>T" ], "proteinEffect": { "hgvs": "NP_001136237.1:p.Arg1035Ter", "hgvsWellDefined": "NP_001136237.1:p.Arg1035_Leu1886delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677616" }, { "@id": "http://reg.genome.network/allele/PA2825824565", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142766.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136238.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136238.1:p.Arg1106_Leu1952delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677617" }, { "@id": "http://reg.genome.network/allele/PA2825831572", "coordinates": [ { "allele": "T", "end": 3585, "referenceAllele": "C", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142768.2:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001136240.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001136240.1:p.Arg1084_Leu1935delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677618" }, { "@id": "http://reg.genome.network/allele/PA915980214", "coordinates": [ { "allele": "T", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142769.3:c.3352C>T" ], "proteinEffect": { "hgvs": "NP_001136241.1:p.Arg1118Ter", "hgvsWellDefined": "NP_001136241.1:p.Arg1118_Leu1790delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677619" }, { "@id": "http://reg.genome.network/allele/PA2825837414", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142770.3:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136242.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136242.1:p.Arg1106_Lys1539delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysAsnTyrProTrpSerLeuGluLeuIleLeuAlaArgAsnMetAspLysIleIleThrValMetSerMetGlyMetLysCysLeuAsnMetGlyValAlaValAspCysTyrHisGlnLeuAspArgArgAsnMetValArgTrpLeuValLysLeuArgLysAsnMetArgArgLysArgLysSerGlnArgLysLeuLysAsnGlnArgLeuLysLeuGluSerLeuValArgArgLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677620" }, { "@id": "http://reg.genome.network/allele/PA2825839928", "coordinates": [ { "allele": "T", "end": 3666, "referenceAllele": "C", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142771.2:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_001136243.1:p.Arg1111Ter", "hgvsWellDefined": "NP_001136243.1:p.Arg1111_Leu1682delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677621" }, { "@id": "http://reg.genome.network/allele/PA2825842065", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142772.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001136244.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001136244.1:p.Arg1106_Leu1677delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisLysTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677622" }, { "@id": "http://reg.genome.network/allele/PA2825847577", "coordinates": [ { "allele": "T", "end": 3585, "referenceAllele": "C", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142773.2:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001136245.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001136245.1:p.Arg1084_Leu1932delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetHisAsnLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677623" }, { "@id": "http://reg.genome.network/allele/PA2827852800", "coordinates": [ { "allele": "T", "end": 3672, "referenceAllele": "C", "start": 3671 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354411.2:c.3337C>T" ], "proteinEffect": { "hgvs": "NP_001341340.1:p.Arg1113Ter", "hgvsWellDefined": "NP_001341340.1:p.Arg1113_Leu1783delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluGluGluProLysLysIleLysLysProLysValGluIleArgGluProSerGluGluGluGluValValValThrIleGluLysProProAlaAlaGluProThrTyrThrThrTrpLysArgAlaArgIlePheProMetIlePheLysLysValArgGlyLeuAlaAspLysArgGlyIleValAspLeuGluGlyGluGluTrpGlnArgArgLeuGluGluGluAspLysAspTyrLeuLysLeuThrLeuAspGlnGluGluAlaThrGluSerThrValGluSerGluGluGluSerSerSerAspTyrThrGluTyrSerGluGluGluSerGluPheSerGluSerGluThrThrGluGluGluSerGluSerGluThrProSerGluGluGluGluSerSerThrProGluSerGluGluSerGluSerThrGluSerGluGlyGluLysAlaArgLysAsnIleValLeuAlaArgArgArgProMetValGluGluValLysGluValLysGlyArgLysGluGluProGlnGluGluGlnLysGluProLysMetGluGluGluGluHisSerGluGluGluGluSerGlyProAlaProValGluGluSerThrAspProGluAlaGlnAspIleProGluGluGlySerAlaGluSerAlaSerValGluGlyGlyValGluSerGluGluGluSerGluSerGlySerSerSerSerSerSerGluSerGlnSerGlyGlyProTrpGlyTyrGlnValProAlaTyrAspArgSerLysAsnAlaAsnGlnLysLysSerProGlyAlaAsnSerGluGlyTyrAsnThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690159" }, { "@id": "http://reg.genome.network/allele/PA2827854312", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354420.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001341349.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001341349.1:p.Arg1106_Leu1675delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690167" }, { "@id": "http://reg.genome.network/allele/PA2827855379", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354429.2:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001341358.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001341358.1:p.Arg1106_Leu1718delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerMetArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690175" }, { "@id": "http://reg.genome.network/allele/PA261845", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_033056.4:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_149045.3:p.Arg1106Ter", "hgvsWellDefined": "NP_149045.3:p.Arg1106_Leu1955delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699254", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320301.11:c.3316C>T" }, "RefSeq": { "hgvs": "NM_033056.4:c.3316C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322604.6:p.Arg1106Ter" }, "RefSeq": { "hgvs": "NP_149045.3:p.Arg1106Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825827966", "coordinates": [ { "allele": "T", "end": 3540, "referenceAllele": "C", "start": 3539 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001142767.2:c.3205C>T" ], "proteinEffect": { "hgvs": "NP_001136239.1:p.Arg1069Ter", "hgvsWellDefined": "NP_001136239.1:p.Arg1069_Leu1915delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712623" }, { "@id": "http://reg.genome.network/allele/PA2827850849", "coordinates": [ { "allele": "T", "end": 3612, "referenceAllele": "C", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001354404.2:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001341333.1:p.Arg1084Ter", "hgvsWellDefined": "NP_001341333.1:p.Arg1084_Leu1933delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleLeuPheLeuLeuTyrHisPheGlnGlnSerArgGlyAsnAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIleGluAlaHisLysSerAlaHisValAspGlySerLeuLysSerAsnLysLeuLysSerAlaArgLysPheThrPheLeuSerAspGluAspAspLeuSerAlaHisAsnProLeuTyrLysGluAsnIleSerGlnValSerThrAsnSerAspIleSerGlnArgThrAspPheValAspProPheSerProLysIleGlnAlaLysSerLysSerLeuArgGlyProArgGluLysIleGlnArgLeuTrpSerGlnSerValSerLeuProArgArgLeuMetArgLysValProAsnArgProGluIleIleAspLeuGlnGlnTrpGlnGlyThrArgGlnLysAlaGluAsnGluAsnThrGlyIleCysThrAsnLysArgGlySerSerAsnProLeuLeuThrThrGluGluAlaAsnLeuThrGluLysGluGluIleArgGlnGlyGluThrLeuMetIleGluGlyThrGluGlnLeuLysSerLeuSerSerAspSerSerPheCysPheProArgProHisPheSerPheSerThrLeuProThrValSerArgThrValGluLeuLysSerGluProAsnValIleSerSerProAlaGluCysSerLeuGluLeuSerProSerArgProCysValLeuHisSerSerLeuSerArgArgGluThrProIleCysMetLeuProIleGluThrGluArgAsnIlePheGluAsnPheAlaHisProProAsnIleSerProSerAlaCysProLeuProProProProProIleSerProProSerProProProAlaProAlaProLeuAlaProProProAspIleSerProPheSerLeuPheCysProProProSerProProSerIleProLeuProLeuProProProThrPhePheProLeuSerValSerThrSerGlyProProThrProProLeuLeuProProPheProThrProLeuProProProProProSerIleProCysProProProProSerAlaSerPheLeuSerThrGluCysValCysIleThrGlyValLysCysThrThrAsnLeuMetProAlaGluLysIleLysSerSerMetThrGlnLeuSerThrThrThrValCysLysThrAspProGlnArgGluProLysGlyIleLeuArgHisValLysAsnLeuAlaGluLeuGluLysSerValAlaAsnMetTyrSerGlnIleGluLysAsnTyrLeuArgThrAsnValSerGluLeuGlnThrMetCysProSerGluValThrAsnMetGluIleThrSerGluGlnAsnLysGlySerLeuAsnAsnIleValGluGlyThrGluLysGlnSerHisSerGlnSerThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720458" }, { "@id": "http://reg.genome.network/allele/PA2828935911", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN014674", "geneNCBI_id": 65217, "geneSymbol": "PCDH15", "hgvs": [ "NM_001384140.1:c.3316C>T" ], "proteinEffect": { "hgvs": "NP_001371069.1:p.Arg1106Ter", "hgvsWellDefined": "NP_001371069.1:p.Arg1106_Leu1740delinsValGlnAlaAspSerLeuGluValValLeuAlaAsnLeuArgValProSerLysSerAsnThrAlaLysValTyrIleGluIleGlnAspGluAsnAsnHisProProValPheGlnLysLysPheTyrIleGlyGlyValSerGluAspAlaArgMetPheThrSerValLeuArgValLysAlaThrAspLysAspThrGlyAsnTyrSerValMetAlaTyrArgLeuIleIleProProIleLysGluGlyLysGluGlyPheValValGluThrTyrThrGlyLeuIleLysThrAlaMetLeuPheHisAsnMetArgArgSerTyrPheLysPheGlnValIleAlaThrAspAspTyrGlyLysGlyLeuSerGlyLysAlaAspValLeuValSerValValAsnGlnLeuAspMetGlnValIleValSerAsnValProProThrLeuValGluLysLysIleGluAspLeuThrGluIleLeuAspArgTyrValGlnGluGlnIleProGlyAlaLysValValValGluSerIleGlyAlaArgArgHisGlyAspAlaPheSerLeuGluAspTyrThrLysCysAspLeuThrValTyrAlaIleAspProGlnThrAsnArgAlaIleAspArgAsnGluLeuPheLysPheLeuAspGlyLysLeuLeuAspIleAsnLysAspPheGlnProTyrTyrGlyGluGlyGlyArgIleLeuGluIleArgThrProGluAlaValThrSerIleLysLysArgGlyGluSerLeuGlyTyrThrGluGlyAlaLeuLeuAlaLeuAlaPheIleIleIleLeuCysCysIleProAlaIleLeuValValLeuValSerTyrArgGlnPheLysValArgGlnAlaGluCysThrLysThrAlaArgIleGlnAlaAlaLeuProAlaAlaLysProAlaValProAlaProAlaProValAlaAlaProProProProProProProProProGlyAlaHisLeuTyrGluGluLeuGlyAspSerSerIleTrpSerPheCysTrpGlnLeuValIleCysMetArgThrCysAlaIleTrpArgThrLeuThrArgArgGlyTyrGlySerGluGlnGlnGlnLeuLeuArgProSerLeuLeuLysProGluGluLeuSerMetGluSerGlyIleAspProGlyGlnGluTyrGlyGlnAspTyrTyrSerTyrGluHisGlyTyrGluMetProGlnTyrGlySerArgArgArgLeuLeuProProAlaGlyGlnGluGluTyrGlyGluValValGlyGluAlaGluGluGluTyrGluGluGluGluTrpAlaArgLysArgMetIleLysLeuValValAspArgGluTyrGluThrSerSerThrGlyGluAspSerAlaProGluCysGlnArgAsnArgLeuHisHisProSerIleHisSerAsnIleAsnGlyAsnIleTyrIleAlaGlnAsnGlySerValValArgThrArgArgAlaCysLeuThrAspAsnLeuLysValAlaSerProValArgLeuGlyGlyProPheLysLysLeuAspLysLeuAlaValThrHisGluGluAsnValProLeuAsnThrLeuSerLysGlyProPheSerThrGluLysMetAsnAlaArgProThrLeuValThrPheAlaProCysProValGlyThrAspAsnThrAlaValLysProLeuArgAsnArgLeuLysSerThrValGluGlnGluSerMetIleAspSerLysAsnIleLysGluAlaLeuGluPheHisSerAspHisThrGlnSerAspAspGluGluLeuTrpMetGlyProTrpAsnAsnLeuHisIleProMetThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722667", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644397.2:c.3316C>T" }, "RefSeq": { "hgvs": "NM_001384140.1:c.3316C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495195.1:p.Arg1106Ter" }, "RefSeq": { "hgvs": "NP_001371069.1:p.Arg1106Ter" } } } } ], "type": "nucleotide" }