{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6426284", "communityStandardTitle": [ "NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4966013", "active": true, "id": "COSM4966013" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4966014", "active": true, "id": "COSM4966014" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1874422[alleleid]", "alleleId": 1874422, "preferredName": "NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137295", "RCV": [ "RCV003037442", "RCV004017960" ], "variationId": 2137295 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-7355280-C-T", "id": "12-7355280-C-T", "variant": "12:7355280 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.7355280C>T?assembly=hg19", "id": "chr12:g.7355280C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.7202684C>T?assembly=hg38", "id": "chr12:g.7202684C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267608194", "rs": 267608194 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-7355280-C-T?dataset=gnomad_r2_1", "id": "12-7355280-C-T", "variant": "12:7355280 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-7202684-C-T?dataset=gnomad_r4", "id": "12-7202684-C-T", "variant": "12:7202684 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 7202684, "referenceAllele": "C", "start": 7202683 } ], "hgvs": [ "NC_000012.12:g.7202684C>T", "CM000674.2:g.7202684C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 7355280, "referenceAllele": "C", "start": 7355279 } ], "hgvs": [ "NC_000012.11:g.7355280C>T", "CM000674.1:g.7355280C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 7246547, "referenceAllele": "C", "start": 7246546 } ], "hgvs": [ "NC_000012.10:g.7246547C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 18522, "referenceAllele": "C", "start": 18521 } ], "hgvs": [ "NG_008448.1:g.18522C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001104" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000675855.1:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000502374.1:p.Arg276Ter", "hgvsWellDefined": "ENSP00000502374.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675855.1:c.826C>T" }, "RefSeq": { "hgvs": "NM_001351132.2:c.826C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502374.1:p.Arg276Ter" }, "RefSeq": { "hgvs": "NP_001338061.1:p.Arg276Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000266563.9:c.715C>T" ], "proteinEffect": { "hgvs": "ENSP00000266563.5:p.Arg239Ter", "hgvsWellDefined": "ENSP00000266563.5:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251916" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000266564.7:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000266564.3:p.Arg276Ter", "hgvsWellDefined": "ENSP00000266564.3:p.Arg276_Gln631delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251917" }, { "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000396637.7:c.760C>T" ], "proteinEffect": { "hgvs": "ENSP00000379877.3:p.Arg254Ter", "hgvsWellDefined": "ENSP00000379877.3:p.Arg254Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS277365" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000412720.6:c.889C>T" ], "proteinEffect": { "hgvs": "ENSP00000391601.2:p.Arg297Ter", "hgvsWellDefined": "ENSP00000391601.2:p.Arg297_Gln660delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282732" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000420616.6:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000410159.2:p.Arg276Ter", "hgvsWellDefined": "ENSP00000410159.2:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286398" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000434354.6:c.871C>T" ], "proteinEffect": { "hgvs": "ENSP00000407401.2:p.Arg291Ter", "hgvsWellDefined": "ENSP00000407401.2:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292984" }, { "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000455147.6:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000400647.2:p.Arg276Ter", "hgvsWellDefined": "ENSP00000400647.2:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302906" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "ENST00000545574.5:c.679C>T" ], "proteinEffect": { "hgvs": "ENSP00000443500.1:p.Arg227Ter", "hgvsWellDefined": "ENSP00000443500.1:p.Arg227Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS365170" }, { "@id": "http://reg.genome.network/allele/PA2825120571", "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_000319.4:c.826C>T" ], "proteinEffect": { "hgvs": "NP_000310.2:p.Arg276Ter", "hgvsWellDefined": "NP_000310.2:p.Arg276_Gln631delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006383" }, { "@id": "http://reg.genome.network/allele/PA2580154294", "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.1:c.871C>T" ], "proteinEffect": { "hgvs": "NP_001124495.1:p.Arg291Ter", "hgvsWellDefined": "NP_001124495.1:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012173" }, { "@id": "http://reg.genome.network/allele/PA2825775202", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001124496.1:p.Arg239Ter", "hgvsWellDefined": "NP_001124496.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012174" }, { "@id": "http://reg.genome.network/allele/PA2825775754", "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001124497.1:p.Arg276Ter", "hgvsWellDefined": "NP_001124497.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012175" }, { "@id": "http://reg.genome.network/allele/PA2825776302", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001124498.1:p.Arg276Ter", "hgvsWellDefined": "NP_001124498.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012176" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.1:c.889C>T" ], "proteinEffect": { "hgvs": "NP_001287718.1:p.Arg297Ter", "hgvsWellDefined": "NP_001287718.1:p.Arg297_Gln660delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024849" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_005253455.1:c.778C>T" ], "proteinEffect": { "hgvs": "XP_005253512.1:p.Arg260Ter", "hgvsWellDefined": "XP_005253512.1:p.Arg260_Gln623delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060293" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_011519095.1:p.Arg312Ter", "hgvsWellDefined": "XP_011519095.1:p.Arg312_Gln675delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087958" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520794.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_011519096.1:p.Arg312Ter", "hgvsWellDefined": "XP_011519096.1:p.Arg312_Gln675delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087959" }, { "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520795.1:c.871C>T" ], "proteinEffect": { "hgvs": "XP_011519097.1:p.Arg291Ter", "hgvsWellDefined": "XP_011519097.1:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087960" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520796.1:c.871C>T" ], "proteinEffect": { "hgvs": "XP_011519098.1:p.Arg291Ter", "hgvsWellDefined": "XP_011519098.1:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087961" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520797.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011519099.1:p.Arg276Ter", "hgvsWellDefined": "XP_011519099.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087962" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520798.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011519100.1:p.Arg276Ter", "hgvsWellDefined": "XP_011519100.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087963" }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520799.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011519101.1:p.Arg276Ter", "hgvsWellDefined": "XP_011519101.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087964" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520800.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011519102.1:p.Arg276Ter", "hgvsWellDefined": "XP_011519102.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087965" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520801.1:c.823C>T" ], "proteinEffect": { "hgvs": "XP_011519103.1:p.Arg275Ter", "hgvsWellDefined": "XP_011519103.1:p.Arg275_Gln638delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087966" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.1:c.577C>T" ], "proteinEffect": { "hgvs": "XP_011519104.1:p.Arg193Ter", "hgvsWellDefined": "XP_011519104.1:p.Arg193_Gln556delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087967" }, { "@id": "http://reg.genome.network/allele/PA2827588490", "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338053.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338053.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519927" }, { "@id": "http://reg.genome.network/allele/PA2827589020", "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338055.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338055.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519929" }, { "@id": "http://reg.genome.network/allele/PA2827589550", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338056.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338056.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519930" }, { "@id": "http://reg.genome.network/allele/PA2827590080", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338057.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338057.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519931" }, { "@id": "http://reg.genome.network/allele/PA2827590610", "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338059.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338059.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519932" }, { "@id": "http://reg.genome.network/allele/PA2827591184", "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338060.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338060.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519933" }, { "@id": "http://reg.genome.network/allele/PA2827591758", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338061.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338061.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519934" }, { "@id": "http://reg.genome.network/allele/PA2827592332", "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338062.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338062.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519935" }, { "@id": "http://reg.genome.network/allele/PA2827592906", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338063.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338063.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519936" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.1:c.823C>T" ], "proteinEffect": { "hgvs": "NP_001338064.1:p.Arg275Ter", "hgvsWellDefined": "NP_001338064.1:p.Arg275_Gln638delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519937" }, { "@id": "http://reg.genome.network/allele/PA2827594016", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338065.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338065.1:p.Arg276_Gln636delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519938" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.1:c.778C>T" ], "proteinEffect": { "hgvs": "NP_001338066.1:p.Arg260Ter", "hgvsWellDefined": "NP_001338066.1:p.Arg260_Gln623delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519939" }, { "@id": "http://reg.genome.network/allele/PA2827594997", "coordinates": [ { "allele": "T", "end": 841, "referenceAllele": "C", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.1:c.760C>T" ], "proteinEffect": { "hgvs": "NP_001338067.1:p.Arg254Ter", "hgvsWellDefined": "NP_001338067.1:p.Arg254_Gln617delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519940" }, { "@id": "http://reg.genome.network/allele/PA2827595527", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338068.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338068.1:p.Arg239_Gln594delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519941" }, { "@id": "http://reg.genome.network/allele/PA2827596052", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338069.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338069.1:p.Arg239_Gln594delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519942" }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.2:c.934C>T" ], "proteinEffect": { "hgvs": "XP_011519095.1:p.Arg312Ter", "hgvsWellDefined": "XP_011519095.1:p.Arg312_Gln675delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545879" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_011519104.1:p.Arg193Ter", "hgvsWellDefined": "XP_011519104.1:p.Arg193_Gln556delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545880" }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "C", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019744.1:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_016875233.1:p.Arg424Ter", "hgvsWellDefined": "XP_016875233.1:p.Arg424_Gln787delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571346" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019745.1:c.1270C>T" ], "proteinEffect": { "hgvs": "XP_016875234.1:p.Arg424Ter", "hgvsWellDefined": "XP_016875234.1:p.Arg424_Gln787delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571347" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019746.1:c.1159C>T" ], "proteinEffect": { "hgvs": "XP_016875235.1:p.Arg387Ter", "hgvsWellDefined": "XP_016875235.1:p.Arg387_Gln750delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571348" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "C", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019747.1:c.1159C>T" ], "proteinEffect": { "hgvs": "XP_016875236.1:p.Arg387Ter", "hgvsWellDefined": "XP_016875236.1:p.Arg387_Gln742delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571349" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019748.1:c.871C>T" ], "proteinEffect": { "hgvs": "XP_016875237.1:p.Arg291Ter", "hgvsWellDefined": "XP_016875237.1:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571350" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019749.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_016875238.1:p.Arg276Ter", "hgvsWellDefined": "XP_016875238.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571351" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019750.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_016875239.1:p.Arg276Ter", "hgvsWellDefined": "XP_016875239.1:p.Arg276_Gln631delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571352" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XR_001748833.1:n.1312C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596775" }, { "@id": "http://reg.genome.network/allele/PA2825120571", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_000319.5:c.826C>T" ], "proteinEffect": { "hgvs": "NP_000310.2:p.Arg276Ter", "hgvsWellDefined": "NP_000310.2:p.Arg276_Gln631delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674789" }, { "@id": "http://reg.genome.network/allele/PA2580154294", "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.2:c.871C>T" ], "proteinEffect": { "hgvs": "NP_001124495.1:p.Arg291Ter", "hgvsWellDefined": "NP_001124495.1:p.Arg291_Gln654delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677195" }, { "@id": "http://reg.genome.network/allele/PA2825775202", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001124496.1:p.Arg239Ter", "hgvsWellDefined": "NP_001124496.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677196" }, { "@id": "http://reg.genome.network/allele/PA2825775754", "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001124497.1:p.Arg276Ter", "hgvsWellDefined": "NP_001124497.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677197" }, { "@id": "http://reg.genome.network/allele/PA2825776302", "coordinates": [ { "allele": "T", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001124498.1:p.Arg276Ter", "hgvsWellDefined": "NP_001124498.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677198" }, { "@id": "http://reg.genome.network/allele/PA2826850812", "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.3:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001287718.2:p.Arg276Ter", "hgvsWellDefined": "NP_001287718.2:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683172" }, { "@id": "http://reg.genome.network/allele/PA2827588490", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.3:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338053.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338053.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688655" }, { "@id": "http://reg.genome.network/allele/PA2827589020", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338055.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338055.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688657" }, { "@id": "http://reg.genome.network/allele/PA2827589550", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338056.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338056.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688658" }, { "@id": "http://reg.genome.network/allele/PA2827590080", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338057.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338057.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688659" }, { "@id": "http://reg.genome.network/allele/PA2827590610", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.3:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338059.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338059.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688660" }, { "@id": "http://reg.genome.network/allele/PA2827591184", "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338060.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338060.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688661" }, { "@id": "http://reg.genome.network/allele/PA2827591758", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338061.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338061.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688662", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675855.1:c.826C>T" }, "RefSeq": { "hgvs": "NM_001351132.2:c.826C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502374.1:p.Arg276Ter" }, "RefSeq": { "hgvs": "NP_001338061.1:p.Arg276Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827592332", "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338062.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338062.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688663" }, { "@id": "http://reg.genome.network/allele/PA2827592906", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338063.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338063.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688664" }, { "@id": "http://reg.genome.network/allele/PA2827593442", "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.3:c.760C>T" ], "proteinEffect": { "hgvs": "NP_001338064.2:p.Arg254Ter", "hgvsWellDefined": "NP_001338064.2:p.Arg254_Gln617delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688665" }, { "@id": "http://reg.genome.network/allele/PA2827594016", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001338065.1:p.Arg276Ter", "hgvsWellDefined": "NP_001338065.1:p.Arg276_Gln636delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688666" }, { "@id": "http://reg.genome.network/allele/PA2827594542", "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.3:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338066.2:p.Arg239Ter", "hgvsWellDefined": "NP_001338066.2:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688667" }, { "@id": "http://reg.genome.network/allele/PA2827594997", "coordinates": [ { "allele": "T", "end": 841, "referenceAllele": "C", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.2:c.760C>T" ], "proteinEffect": { "hgvs": "NP_001338067.1:p.Arg254Ter", "hgvsWellDefined": "NP_001338067.1:p.Arg254_Gln617delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688668" }, { "@id": "http://reg.genome.network/allele/PA2827595527", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338068.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338068.1:p.Arg239_Gln594delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688669" }, { "@id": "http://reg.genome.network/allele/PA2827596052", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001338069.1:p.Arg239Ter", "hgvsWellDefined": "NP_001338069.1:p.Arg239_Gln594delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688670" }, { "@id": "http://reg.genome.network/allele/PA2828531136", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374645.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001361574.1:p.Arg239Ter", "hgvsWellDefined": "NP_001361574.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693333" }, { "@id": "http://reg.genome.network/allele/PA2828531666", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374646.1:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001361575.1:p.Arg239Ter", "hgvsWellDefined": "NP_001361575.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693334" }, { "@id": "http://reg.genome.network/allele/PA2828532240", "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374647.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001361576.1:p.Arg276Ter", "hgvsWellDefined": "NP_001361576.1:p.Arg276_Gln639delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693335" }, { "@id": "http://reg.genome.network/allele/PA2828532770", "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374648.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001361577.1:p.Arg239Ter", "hgvsWellDefined": "NP_001361577.1:p.Arg239_Gln602delinsAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693336" }, { "@id": "http://reg.genome.network/allele/PA2828533250", "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374649.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001361578.1:p.Arg239Ter", "hgvsWellDefined": "NP_001361578.1:p.Arg239_Gln594delinsAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693337" } ], "type": "nucleotide" }