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"http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674575.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502276.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502276.1:p.Arg88_Gly214delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774523" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674614.1:n.386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774554" }, { 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"endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 289, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674649.1:c.165+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000501669.1:n.165+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774586" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674657.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502314.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502314.1:p.Arg88_Cys136delinsAlaValSerAlaPheGlyValValGlyIleTyrGluTyrPheLysMetTrpThrTyrLeuAlaIlePheThrLeuValThrAlaMetIleCysProThrHisPheAsnIleIleSerLeuSerCysGluCysProTrpArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774593" }, { 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"end": 233, "referenceAllele": "C", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674830.1:n.233C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774734" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674884.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502668.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502668.1:p.Arg88_Leu913delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerPheAsnSerValLeuSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774778" }, { "coordinates": [ { "allele": "T", "end": 305, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 305, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674930.1:c.165+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000502657.1:n.165+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774816" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674933.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000502376.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000502376.1:p.Arg11_Leu801delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774819" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674956.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501904.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501904.1:p.Arg88_Gly216delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774838" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675002.1:n.350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774881" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675004.1:c.*214C>T" ], "proteinEffect": { "hgvs": "ENSP00000501868.1:n.*214C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774883" }, { "coordinates": [ { "allele": "T", "end": 320, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 320, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675009.1:c.165+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000502098.1:n.165+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774886" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675096.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502116.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502116.1:p.Arg88_Leu838delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774965" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675122.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501810.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501810.1:p.Arg88_Asn663delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluGlyPheLeuAlaArgSerProAlaAsnLeuGluCysSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774988" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675153.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501682.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501682.1:p.Arg88_Val382delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775019" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675284.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502758.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502758.1:p.Arg88_Leu849delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775124" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675311.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501961.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501961.1:p.Arg88_Cys136delinsAlaValSerAlaPheGlyValValGlyIleTyrGluTyrPheLysMetTrpThrTyrLeuAlaIlePheThrLeuValThrAlaMetIleCysProThrHisPheAsnIleIleSerLeuSerCysGluCysProTrpArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775147" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675426.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501819.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501819.1:p.Arg88_Cys136delinsAlaValSerAlaPheGlyValValGlyIleTyrGluTyrPheLysMetTrpThrTyrLeuAlaIlePheThrLeuValThrAlaMetIleCysProThrHisPheAsnIleIleSerLeuSerCysGluCysProTrpArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775251" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675523.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000502384.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000502384.1:p.Arg11_Leu830delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775331" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675552.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502197.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502197.1:p.Arg88_Gly216delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775353" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675606.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000501583.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000501583.1:p.Arg11_Ile33del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775400" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675681.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502705.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502705.1:p.Arg88_Phe604delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775467" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675714.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502561.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502561.1:p.Arg88_Ser816delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluValArgGlyArgGluAlaCysGlyIleGlnProGluAlaLeuGluAsnAspLeuTyrAsnSerAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775497" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675726.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502452.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502452.1:p.Arg88_Leu878delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775505" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675772.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000501678.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000501678.1:p.Arg88_His864delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuHisCysGluGluProValSerLeuAlaValGlnLeuGlnGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775544" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675831.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502382.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502382.1:p.Arg88_Leu776delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerValAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775599" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675844.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000502353.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000502353.1:p.Arg11_Thr214delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerSerIleLeuSerGluGluLysGluAsnLeuProMetIleLeuCysSerArgAsnThrLysLysAsnAlaAspTyrLeuAsnArgProValIleTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775611" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675847.1:n.386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775613" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675887.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502123.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502123.1:p.Arg88_Ile115delinsAlaValSerAlaPheGlyValValGlyGlyArgTrpArgIleLeuGluValMetGlnSerIleArgSerLysIleGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775649" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675973.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502407.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502407.1:p.Arg88_Phe561delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGluLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775720" }, { "coordinates": [ { "allele": "T", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675991.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502162.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502162.1:p.Arg88_Gly216delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775735" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "C", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675994.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502419.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502419.1:p.Arg88_Gly216delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775737" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676021.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502746.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502746.1:p.Arg88_Val382delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775762" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676037.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502181.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502181.1:p.Arg88_Ala743delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775775" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676136.1:n.402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775862" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676435.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502614.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502614.1:p.Arg88_Ile361delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrCysValTrpSerHisValPheAsnAsnAsnSerCysProHisIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776117" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676442.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000502595.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000502595.1:p.Arg88_Leu864delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGluLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776123" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000230124.7:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000230124.3:p.Arg88Ter", "hgvsWellDefined": "ENSP00000230124.3:p.Arg88_Leu907delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248733" }, { "coordinates": [ { "allele": "T", "end": 36, "referenceAllele": "C", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000368941.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000357937.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000357937.1:p.Arg11_Gly139delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267276" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000454215.5:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000412156.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000412156.1:p.Arg67Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302469" }, { "@id": "http://reg.genome.network/allele/PA645468602", "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.5:c.262C>T", "LRG_241t1:c.262C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Arg88Ter", "hgvsWellDefined": "NP_055660.1:p.Arg88_Leu907delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033518" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.1:c.199C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Arg67Ter", "hgvsWellDefined": "XP_011534583.1:p.Arg67_Leu886delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103283" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.3:c.199C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Arg67Ter", "hgvsWellDefined": "XP_011534583.1:p.Arg67_Leu886delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552427" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011591.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016867080.1:p.Arg88Ter", "hgvsWellDefined": "XP_016867080.1:p.Arg88_Ala743delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565414" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011592.1:c.-131C>T" ], "proteinEffect": { "hgvs": "XP_016867081.1:n.-131C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565415" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011593.2:c.-439C>T" ], "proteinEffect": { "hgvs": "XP_016867082.1:n.-439C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565416" }, { "@id": "http://reg.genome.network/allele/PA645468602", "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.6:c.262C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Arg88Ter", "hgvsWellDefined": "NP_055660.1:p.Arg88_Leu907delinsAlaValSerAlaPheGlyValValGlyPheValArgPheLeuGluGlyTyrTyrIleValLeuIleThrLysArgArgLysMetAlaAspIleGlyGlyHisAlaIleTyrLysValGluAspThrAsnMetIleTyrIleProAsnAspSerValArgValThrHisProAspGluAlaArgTyrLeuArgIlePheGlnAsnValAspLeuSerSerAsnPheTyrPheSerTyrSerTyrAspLeuSerHisSerLeuGlnTyrAsnLeuThrValLeuArgMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697365", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230124.8:c.262C>T" }, "RefSeq": { "hgvs": "NM_014845.6:c.262C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230124.4:p.Arg88Ter" }, "RefSeq": { "hgvs": "NP_055660.1:p.Arg88Ter" } } } } ], "type": "nucleotide" }