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"http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675516.1:n.438C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775325" }, { "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675523.1:c.976C>T" ], "proteinEffect": { "hgvs": "ENSP00000502384.1:p.Gln326Ter", "hgvsWellDefined": "ENSP00000502384.1:p.Gln326_Leu830delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775331" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675552.1:c.*326C>T" ], "proteinEffect": { "hgvs": "ENSP00000502197.1:n.*326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775353" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675681.1:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000502705.1:p.Gln403Ter", "hgvsWellDefined": "ENSP00000502705.1:p.Gln403_Phe604delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775467" }, { "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675714.1:c.1207C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775497" }, { "coordinates": [ { "allele": "T", "end": 1394, "referenceAllele": "C", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675726.1:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000502452.1:p.Gln403Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775505" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675772.1:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000501678.1:p.Gln403Ter", "hgvsWellDefined": "ENSP00000501678.1:p.Gln403_His864delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuHisCysGluGluProValSerLeuAlaValGlnLeuGlnGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775544" }, { "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675831.1:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000502382.1:p.Gln272Ter", "hgvsWellDefined": "ENSP00000502382.1:p.Gln272_Leu776delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775599" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675847.1:n.1331C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775613" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675887.1:c.*810C>T" ], "proteinEffect": { "hgvs": "ENSP00000502123.1:n.*810C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775649" }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675973.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000502407.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000502407.1:p.Gln360_Phe561delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775720" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675991.1:c.*326C>T" ], "proteinEffect": { "hgvs": "ENSP00000502162.1:n.*326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775735" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "C", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675994.1:c.*326C>T" ], "proteinEffect": { "hgvs": "ENSP00000502419.1:n.*326C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775737" }, { "coordinates": [ { "allele": "T", "end": 1261, "endIntronDirection": "-", "endIntronOffset": 1771, "referenceAllele": "C", "start": 1261, "startIntronDirection": "-", "startIntronOffset": 1772 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676021.1:c.1138-1772C>T" ], "proteinEffect": { "hgvs": "ENSP00000502746.1:n.1138-1772C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775762" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676037.1:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000502181.1:p.Gln403Ter", "hgvsWellDefined": "ENSP00000502181.1:p.Gln403_Ala743delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775775" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676136.1:n.1347C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775862" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676442.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000502595.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000502595.1:p.Gln360_Leu864delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776123" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000230124.7:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000230124.3:p.Gln403Ter", "hgvsWellDefined": "ENSP00000230124.3:p.Gln403_Leu907delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248733" }, { "@id": "http://reg.genome.network/allele/PA645468649", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.5:c.1207C>T", "LRG_241t1:c.1207C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Gln403Ter", "hgvsWellDefined": "NP_055660.1:p.Gln403_Leu907delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033518" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.1:c.1144C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Gln382Ter", "hgvsWellDefined": "XP_011534583.1:p.Gln382_Leu886delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103283" }, { "coordinates": [ { "allele": "T", "end": 1955, "referenceAllele": "C", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.3:c.1144C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Gln382Ter", "hgvsWellDefined": "XP_011534583.1:p.Gln382_Leu886delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552427" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011591.2:c.1207C>T" ], "proteinEffect": { "hgvs": "XP_016867080.1:p.Gln403Ter", "hgvsWellDefined": "XP_016867080.1:p.Gln403_Ala743delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565414" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011592.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_016867081.1:p.Gln220Ter", "hgvsWellDefined": "XP_016867081.1:p.Gln220_Leu724delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565415" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011593.2:c.277C>T" ], "proteinEffect": { "hgvs": "XP_016867082.1:p.Gln93Ter", "hgvsWellDefined": "XP_016867082.1:p.Gln93_Leu597delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565416" }, { "@id": "http://reg.genome.network/allele/PA645468649", "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.6:c.1207C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Gln403Ter", "hgvsWellDefined": "NP_055660.1:p.Gln403_Leu907delinsPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697365", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230124.8:c.1207C>T" }, "RefSeq": { "hgvs": "NM_014845.6:c.1207C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230124.4:p.Gln403Ter" }, "RefSeq": { "hgvs": "NP_055660.1:p.Gln403Ter" } } } } ], "type": "nucleotide" }