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"ENSP00000440711.1:p.Trp101_Ala128del" }, "referenceSequence": "http://reg.genome.network/refseq/RS365315" }, { "@id": "http://reg.genome.network/allele/PA2825120473", "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_000319.4:c.552G>A" ], "proteinEffect": { "hgvs": "NP_000310.2:p.Trp184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006383" }, { "@id": "http://reg.genome.network/allele/PA2825774803", "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.1:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001124495.1:p.Trp199Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012173" }, { "@id": "http://reg.genome.network/allele/PA2825775160", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124496.1:p.Trp184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012174" }, { "@id": "http://reg.genome.network/allele/PA2825775676", "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "G", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124497.1:p.Trp184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012175" }, { "@id": "http://reg.genome.network/allele/PA2825776215", "coordinates": [ { "allele": "A", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124498.1:p.Trp184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012176" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.1:c.615G>A" ], "proteinEffect": { "hgvs": "NP_001287718.1:p.Trp205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS024849" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_005253455.1:c.615G>A" ], "proteinEffect": { "hgvs": "XP_005253512.1:p.Trp205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060293" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.1:c.660G>A" ], "proteinEffect": { "hgvs": "XP_011519095.1:p.Trp220Ter", "hgvsWellDefined": "XP_011519095.1:p.Trp220_Gln675delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087958" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520794.1:c.660G>A" ], "proteinEffect": { "hgvs": "XP_011519096.1:p.Trp220Ter", "hgvsWellDefined": "XP_011519096.1:p.Trp220_Gln675delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087959" }, { "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520795.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011519097.1:p.Trp199Ter", "hgvsWellDefined": "XP_011519097.1:p.Trp199_Gln654delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087960" }, { "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520796.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011519098.1:p.Trp199Ter", "hgvsWellDefined": "XP_011519098.1:p.Trp199_Gln654delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087961" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520797.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_011519099.1:p.Trp184Ter", "hgvsWellDefined": "XP_011519099.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087962" }, { "coordinates": [ { "allele": "A", "end": 812, "referenceAllele": "G", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520798.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_011519100.1:p.Trp184Ter", "hgvsWellDefined": "XP_011519100.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087963" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520799.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_011519101.1:p.Trp184Ter", "hgvsWellDefined": "XP_011519101.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087964" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520800.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_011519102.1:p.Trp184Ter", "hgvsWellDefined": "XP_011519102.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087965" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520801.1:c.660G>A" ], "proteinEffect": { "hgvs": "XP_011519103.1:p.Trp220Ter", "hgvsWellDefined": "XP_011519103.1:p.Trp220_Gln638delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087966" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.1:c.303G>A" ], "proteinEffect": { "hgvs": "XP_011519104.1:p.Trp101Ter", "hgvsWellDefined": "XP_011519104.1:p.Trp101_Gln556delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087967" }, { "@id": "http://reg.genome.network/allele/PA2827588447", "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "G", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338053.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338053.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519927" }, { "@id": "http://reg.genome.network/allele/PA2827588979", "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338055.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338055.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519929" }, { "@id": "http://reg.genome.network/allele/PA2827589507", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338056.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338056.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519930" }, { "@id": "http://reg.genome.network/allele/PA2827590039", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338057.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338057.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519931" }, { "@id": "http://reg.genome.network/allele/PA2827590567", "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338059.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338059.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519932" }, { "@id": "http://reg.genome.network/allele/PA2827591097", "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338060.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338060.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519933" }, { "@id": "http://reg.genome.network/allele/PA2827591673", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338061.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338061.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519934" }, { "@id": "http://reg.genome.network/allele/PA2827592247", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338062.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338062.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519935" }, { "@id": "http://reg.genome.network/allele/PA2827592820", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338063.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338063.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519936" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.1:c.660G>A" ], "proteinEffect": { "hgvs": "NP_001338064.1:p.Trp220Ter", "hgvsWellDefined": "NP_001338064.1:p.Trp220_Gln638delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519937" }, { "@id": "http://reg.genome.network/allele/PA2827593931", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338065.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338065.1:p.Trp184_Gln636delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519938" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.1:c.615G>A" ], "proteinEffect": { "hgvs": "NP_001338066.1:p.Trp205Ter", "hgvsWellDefined": "NP_001338066.1:p.Trp205_Gln623delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519939" }, { "@id": "http://reg.genome.network/allele/PA2580215596", "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.1:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001338067.1:p.Trp199Ter", "hgvsWellDefined": "NP_001338067.1:p.Trp199_Gln617delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519940" }, { "@id": "http://reg.genome.network/allele/PA2827595486", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338068.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338068.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519941" }, { "@id": "http://reg.genome.network/allele/PA2827596009", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338069.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338069.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519942" }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "G", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.2:c.660G>A" ], "proteinEffect": { "hgvs": "XP_011519095.1:p.Trp220Ter", "hgvsWellDefined": "XP_011519095.1:p.Trp220_Gln675delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545879" }, { "coordinates": [ { "allele": "A", "end": 455, "referenceAllele": "G", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.2:c.303G>A" ], "proteinEffect": { "hgvs": "XP_011519104.1:p.Trp101Ter", "hgvsWellDefined": "XP_011519104.1:p.Trp101_Gln556delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545880" }, { "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "G", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019744.1:c.996G>A" ], "proteinEffect": { "hgvs": "XP_016875233.1:p.Trp332Ter", "hgvsWellDefined": "XP_016875233.1:p.Trp332_Gln787delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571346" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019745.1:c.996G>A" ], "proteinEffect": { "hgvs": "XP_016875234.1:p.Trp332Ter", "hgvsWellDefined": "XP_016875234.1:p.Trp332_Gln787delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571347" }, { "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "G", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019746.1:c.996G>A" ], "proteinEffect": { "hgvs": "XP_016875235.1:p.Trp332Ter", "hgvsWellDefined": "XP_016875235.1:p.Trp332_Gln750delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571348" }, { "coordinates": [ { "allele": "A", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019747.1:c.996G>A" ], "proteinEffect": { "hgvs": "XP_016875236.1:p.Trp332Ter", "hgvsWellDefined": "XP_016875236.1:p.Trp332_Gln742delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571349" }, { "coordinates": [ { "allele": "A", "end": 1301, "referenceAllele": "G", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019748.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_016875237.1:p.Trp199Ter", "hgvsWellDefined": "XP_016875237.1:p.Trp199_Gln654delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571350" }, { "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019749.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_016875238.1:p.Trp184Ter", "hgvsWellDefined": "XP_016875238.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571351" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019750.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_016875239.1:p.Trp184Ter", "hgvsWellDefined": "XP_016875239.1:p.Trp184_Gln631delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571352" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XR_001748833.1:n.1038G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596775" }, { "@id": "http://reg.genome.network/allele/PA2825120473", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_000319.5:c.552G>A" ], "proteinEffect": { "hgvs": "NP_000310.2:p.Trp184Ter", "hgvsWellDefined": "NP_000310.2:p.Trp184_Gln631delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674789" }, { "@id": "http://reg.genome.network/allele/PA2825774803", "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.2:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001124495.1:p.Trp199Ter", "hgvsWellDefined": "NP_001124495.1:p.Trp199_Gln654delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677195" }, { "@id": "http://reg.genome.network/allele/PA2825775160", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124496.1:p.Trp184Ter", "hgvsWellDefined": "NP_001124496.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677196" }, { "@id": "http://reg.genome.network/allele/PA2825775676", "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "G", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124497.1:p.Trp184Ter", "hgvsWellDefined": "NP_001124497.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677197" }, { "@id": "http://reg.genome.network/allele/PA2825776215", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001124498.1:p.Trp184Ter", "hgvsWellDefined": "NP_001124498.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677198" }, { "@id": "http://reg.genome.network/allele/PA2826850727", "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.3:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001287718.2:p.Trp184Ter", "hgvsWellDefined": "NP_001287718.2:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683172" }, { "@id": "http://reg.genome.network/allele/PA2827588447", "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "G", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.3:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338053.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338053.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688655" }, { "@id": "http://reg.genome.network/allele/PA2827588979", "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338055.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338055.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688657" }, { "@id": "http://reg.genome.network/allele/PA2827589507", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338056.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338056.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688658" }, { "@id": "http://reg.genome.network/allele/PA2827590039", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338057.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338057.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688659" }, { "@id": "http://reg.genome.network/allele/PA2827590567", "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "G", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.3:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338059.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338059.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688660" }, { "@id": "http://reg.genome.network/allele/PA2827591097", "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338060.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338060.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688661" }, { "@id": "http://reg.genome.network/allele/PA2827591673", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338061.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338061.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688662", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675855.1:c.552G>A" }, "RefSeq": { "hgvs": "NM_001351132.2:c.552G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502374.1:p.Trp184Ter" }, "RefSeq": { "hgvs": "NP_001338061.1:p.Trp184Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827592247", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338062.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338062.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688663" }, { "@id": "http://reg.genome.network/allele/PA2827592820", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338063.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338063.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688664" }, { "@id": "http://reg.genome.network/allele/PA2827593399", "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.3:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001338064.2:p.Trp199Ter", "hgvsWellDefined": "NP_001338064.2:p.Trp199_Gln617delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688665" }, { "@id": "http://reg.genome.network/allele/PA2827593931", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338065.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338065.1:p.Trp184_Gln636delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688666" }, { "@id": "http://reg.genome.network/allele/PA2827594501", "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.3:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338066.2:p.Trp184Ter", "hgvsWellDefined": "NP_001338066.2:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688667" }, { "@id": "http://reg.genome.network/allele/PA2580215596", "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.2:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001338067.1:p.Trp199Ter", "hgvsWellDefined": "NP_001338067.1:p.Trp199_Gln617delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688668" }, { "@id": "http://reg.genome.network/allele/PA2827595486", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338068.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338068.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688669" }, { "@id": "http://reg.genome.network/allele/PA2827596009", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001338069.1:p.Trp184Ter", "hgvsWellDefined": "NP_001338069.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688670" }, { "@id": "http://reg.genome.network/allele/PA2828531095", "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374645.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001361574.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361574.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693333" }, { "@id": "http://reg.genome.network/allele/PA2828531623", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374646.1:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001361575.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361575.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693334" }, { "@id": "http://reg.genome.network/allele/PA2828532153", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374647.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001361576.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361576.1:p.Trp184_Gln639delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluPheLeuLysPheValArgGlnIleGlyGluGlyGlnValSerLeuGluSerGlyAlaGlySerGlyArgAlaGlnAlaGluGlnTrpAlaAlaGluPheIleGlnGlnGlnGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693335" }, { "@id": "http://reg.genome.network/allele/PA2828532727", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374648.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001361577.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361577.1:p.Trp184_Gln602delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluSerAspValAspPheTrpAspLysLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693336" }, { "@id": "http://reg.genome.network/allele/PA2828533209", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374649.2:c.552G>A" ], "proteinEffect": { "hgvs": "NP_001361578.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361578.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693337" } ], "type": "nucleotide" }