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"ENSP00000507268.1:p.Gln541_Gly1020delinsLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysSerGlnThrAspLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683255.1:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000508340.1:p.Gln541Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828237" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Gln541Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "T", "end": 1636, "referenceAllele": "C", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683573.1:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000508031.1:p.Gln541Ter", "hgvsWellDefined": "ENSP00000508031.1:p.Gln541_Cys949delinsLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgTyrTyrAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828546" }, { "coordinates": [ { "allele": "T", "end": 1636, "referenceAllele": "C", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.1621C>T" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Gln541Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.745C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.1363C>T" ], "proteinEffect": { "hgvs": 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"ENSP00000507141.1:p.Gln455_Leu1135delinsLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAlaLeuTrpGluValLysValGlyArgSerProGluAlaArgSerSerArgProAlaTrpProThrTrpArgAsnProValSerThrMetHisGlyValIleSerHisIleSerLeuAlaLeuThrTrpLeuIleAsnMetLeuTer" 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