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}, "referenceSequence": "http://reg.genome.network/refseq/RS006383" }, { "@id": "http://reg.genome.network/allele/PA2825774803", "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.1:c.596G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.1:c.551G>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": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.1:c.551G>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": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.1:c.551G>A" ], "proteinEffect": { "hgvs": "NP_001124498.1:p.Trp184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012176" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.1:c.614G>A" ], "proteinEffect": { "hgvs": "NP_001287718.1:p.Trp205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS024849" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_005253455.1:c.614G>A" ], "proteinEffect": { "hgvs": "XP_005253512.1:p.Trp205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060293" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.1:c.659G>A" ], "proteinEffect": { "hgvs": "XP_011519095.1:p.Trp220Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS087958" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520794.1:c.659G>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": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520795.1:c.596G>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": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520796.1:c.596G>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": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520797.1:c.551G>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": 811, "referenceAllele": "G", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520798.1:c.551G>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": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520799.1:c.551G>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": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520800.1:c.551G>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": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520801.1:c.659G>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": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.1:c.302G>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": 693, "referenceAllele": "G", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.1:c.551G>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": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.1:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.1:c.551G>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": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.1:c.551G>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": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.1:c.551G>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": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.1:c.551G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.1:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.1:c.551G>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": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.1:c.551G>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": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.1:c.659G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.1:c.551G>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": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.1:c.614G>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": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.1:c.596G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.1:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.1:c.551G>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": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520793.2:c.659G>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": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_011520802.2:c.302G>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": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019744.1:c.995G>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": 1037, "referenceAllele": "G", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019745.1:c.995G>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": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019746.1:c.995G>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": 1039, "referenceAllele": "G", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019747.1:c.995G>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": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019748.1:c.596G>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": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019749.1:c.551G>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": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XM_017019750.1:c.551G>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": 1037, "referenceAllele": "G", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "XR_001748833.1:n.1037G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596775" }, { "@id": "http://reg.genome.network/allele/PA2825120473", "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_000319.5:c.551G>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": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131023.2:c.596G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131024.2:c.551G>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": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131025.2:c.551G>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": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001131026.2:c.551G>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": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001300789.3:c.551G>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": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351124.3:c.551G>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": 886, "referenceAllele": "G", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351126.2:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.2:c.551G>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": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.2:c.551G>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": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.3:c.551G>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": 886, "referenceAllele": "G", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351131.2:c.551G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.2:c.551G>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.551G>A" }, "RefSeq": { "hgvs": "NM_001351132.2:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.2:c.551G>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": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.2:c.551G>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": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.3:c.596G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.2:c.551G>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": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.3:c.551G>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": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.2:c.596G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.2:c.551G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351140.2:c.551G>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": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374645.1:c.551G>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": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374646.1:c.551G>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": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374647.2:c.551G>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": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374648.2:c.551G>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": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374649.2:c.551G>A" ], "proteinEffect": { "hgvs": "NP_001361578.1:p.Trp184Ter", "hgvsWellDefined": "NP_001361578.1:p.Trp184_Gln594delinsTyrAspGluTyrHisProGluGluAspLeuGlnHisThrAlaSerAspPheValAlaLysValAspAspProLysLeuAlaAsnSerGluGlyThrSerAspAlaTrpValAspGlnPheThrArgProValAsnThrSerAlaLeuAspMetGluPheGluArgAlaLysSerAlaIleGluLeuGlnAlaGluLeuGluGluMetAlaLysArgAspAlaGluAlaHisProTrpLeuSerAspTyrAspAspLeuThrSerAlaThrTyrAspLysGlyTyrGlnPheGluGluGluAsnProLeuArgAspHisProGlnProPheGluGluGlyLeuArgArgLeuGlnGluGlyAspLeuProAsnAlaValLeuLeuPheGluAlaAlaValGlnGlnAspProLysHisMetGluAlaTrpGlnTyrLeuGlyThrThrGlnAlaGluAsnGluGlnGluLeuLeuAlaIleSerAlaLeuArgArgCysLeuGluLeuLysProAspAsnGlnThrAlaLeuMetAlaLeuAlaValSerPheThrAsnGluSerLeuGlnArgGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693337" } ], "type": "nucleotide" }