{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251931", "communityStandardTitle": [ "NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16762[alleleid]", "alleleId": 16762, "preferredName": "NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1723", "RCV": [ "RCV000001796", "RCV000001793", "RCV000235305", "RCV001046714", "RCV001095516", "RCV003944790" ], "variationId": 1723 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-110056402-C-T", "id": "6-110056402-C-T", "variant": "6:110056402 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.110056402C>T?assembly=hg19", "id": "chr6:g.110056402C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.109735199C>T?assembly=hg38", "id": "chr6:g.109735199C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908288", "rs": 121908288 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-110056402-C-T?dataset=gnomad_r2_1", "id": "6-110056402-C-T", "variant": "6:110056402 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-109735199-C-T?dataset=gnomad_r3", "id": "6-109735199-C-T", "variant": "6:109735199 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-109735199-C-T?dataset=gnomad_r4", "id": "6-109735199-C-T", "variant": "6:109735199 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 109735199, "referenceAllele": "C", "start": 109735198 } ], "hgvs": [ "NC_000006.12:g.109735199C>T", "CM000668.2:g.109735199C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 110056402, "referenceAllele": "C", "start": 110056401 } ], "hgvs": [ "NC_000006.11:g.110056402C>T", "CM000668.1:g.110056402C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 110163095, "referenceAllele": "C", "start": 110163094 } ], "hgvs": [ "NC_000006.10:g.110163095C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 48979, "referenceAllele": "C", "start": 48978 } ], "hgvs": [ "NG_007977.1:g.48979C>T", "LRG_241:g.48979C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000745" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000230124.8:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000230124.4:p.Arg183Ter", "hgvsWellDefined": "ENSP00000230124.4:p.Arg183_Leu907delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230124.8:c.547C>T" }, "RefSeq": { "hgvs": "NM_014845.6:c.547C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230124.4:p.Arg183Ter" }, "RefSeq": { "hgvs": "NP_055660.1:p.Arg183Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000368941.2:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000357937.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000357937.2:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750328" }, { "coordinates": [ { "allele": "T", "end": 185, "endIntronDirection": "-", "endIntronOffset": 26891, "referenceAllele": "C", "start": 185, "startIntronDirection": "-", "startIntronOffset": 26892 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000415980.2:c.-223-26892C>T" ], "proteinEffect": { "hgvs": "ENSP00000405660.2:n.-223-26892C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS754634" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000454215.6:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000412156.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000412156.2:p.Arg183_Thr330del" }, "referenceSequence": "http://reg.genome.network/refseq/RS756457" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674532.1:n.717C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774484" }, { "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674557.1:c.390C>T" ], "proteinEffect": { "hgvs": "ENSP00000501608.1:p.Cys130=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774507" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674569.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502769.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502769.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774517" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674571.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000501633.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000501633.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774519" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674575.1:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000502276.1:p.Arg181Ter", "hgvsWellDefined": "ENSP00000502276.1:p.Arg181_Gly214delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774523" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674614.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774554" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674641.1:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000501609.1:p.Arg68Ter", "hgvsWellDefined": "ENSP00000501609.1:p.Arg68_Leu792delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774578" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674644.1:c.-154C>T" ], "proteinEffect": { "hgvs": "ENSP00000502201.1:n.-154C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774581" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674649.1:c.*240C>T" ], "proteinEffect": { "hgvs": "ENSP00000501669.1:n.*240C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774586" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674657.1:c.390C>T" ], "proteinEffect": { "hgvs": "ENSP00000502314.1:p.Cys130=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774593" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674744.1:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000501661.1:p.Arg181Ter", "hgvsWellDefined": "ENSP00000501661.1:p.Arg181_Leu905delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774665" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674778.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502742.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502742.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774693" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674783.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502755.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502755.1:p.Arg183_Leu370delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrCysAlaPheSerSerPhePheLeuLeuSerGlySerGlyArgSerIleCysThrCysGlyCysProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774698" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674830.1:n.518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774734" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674884.1:c.565C>T" ], "proteinEffect": { "hgvs": "ENSP00000502668.1:p.Arg189Ter", "hgvsWellDefined": "ENSP00000502668.1:p.Arg189_Leu913delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774778" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674930.1:c.*65C>T" ], "proteinEffect": { "hgvs": "ENSP00000502657.1:n.*65C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774816" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674933.1:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000502376.1:p.Arg106Ter", "hgvsWellDefined": "ENSP00000502376.1:p.Arg106_Leu801delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774819" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000674956.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000501904.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000501904.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774838" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675002.1:n.635C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774881" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675004.1:c.*499C>T" ], "proteinEffect": { "hgvs": "ENSP00000501868.1:n.*499C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774883" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675009.1:c.*65C>T" ], "proteinEffect": { "hgvs": "ENSP00000502098.1:n.*65C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774886" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675096.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502116.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502116.1:p.Arg183_Leu838delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774965" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675122.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000501810.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000501810.1:p.Arg183_Asn663delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluGlyPheLeuAlaArgSerProAlaAsnLeuGluCysSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774988" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675153.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000501682.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000501682.1:p.Arg183_Val382delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775019" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675284.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502758.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502758.1:p.Arg183_Leu849delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775124" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675311.1:c.390C>T" ], "proteinEffect": { "hgvs": "ENSP00000501961.1:p.Cys130=" }, "referenceSequence": "http://reg.genome.network/refseq/RS775147" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "C", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675426.1:c.390C>T" ], "proteinEffect": { "hgvs": "ENSP00000501819.1:p.Cys130=" }, "referenceSequence": "http://reg.genome.network/refseq/RS775251" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675523.1:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000502384.1:p.Arg106Ter", "hgvsWellDefined": "ENSP00000502384.1:p.Arg106_Leu830delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775331" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675552.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502197.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502197.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775353" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675681.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502705.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502705.1:p.Arg183_Phe604delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775467" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675714.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502561.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502561.1:p.Arg183_Ser816delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluValArgGlyArgGluAlaCysGlyIleGlnProGluAlaLeuGluAsnAspLeuTyrAsnSerAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775497" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675726.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502452.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502452.1:p.Arg183_Leu878delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775505" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675772.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000501678.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000501678.1:p.Arg183_His864delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuHisCysGluGluProValSerLeuAlaValGlnLeuGlnGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775544" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675831.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502382.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502382.1:p.Arg183_Leu776delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerValAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775599" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675834.1:n.385C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775602" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675844.1:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000502353.1:p.Arg106Ter", "hgvsWellDefined": "ENSP00000502353.1:p.Arg106_Thr214delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerSerIleLeuSerGluGluLysGluAsnLeuProMetIleLeuCysSerArgAsnThrLysLysAsnAlaAspTyrLeuAsnArgProValIleTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775611" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675847.1:n.671C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775613" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675887.1:c.*150C>T" ], "proteinEffect": { "hgvs": "ENSP00000502123.1:n.*150C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775649" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675973.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502407.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502407.1:p.Arg183_Phe561delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGluLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerGlyAsnSerGluValIleAlaIlePheLysThrTyrSerGluValHisPheLeuTyrValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775720" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675991.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502162.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502162.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775735" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000675994.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502419.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502419.1:p.Arg183_Gly216delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775737" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676021.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502746.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502746.1:p.Arg183_Val382delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775762" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676037.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502181.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502181.1:p.Arg183_Ala743delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775775" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676136.1:n.687C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775862" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676435.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502614.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502614.1:p.Arg183_Ile361delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrCysValTrpSerHisValPheAsnAsnAsnSerCysProHisIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776117" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000676442.1:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000502595.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000502595.1:p.Arg183_Leu864delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGluLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776123" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000230124.7:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000230124.3:p.Arg183Ter", "hgvsWellDefined": "ENSP00000230124.3:p.Arg183_Leu907delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248733" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000368941.1:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000357937.1:p.Arg106Ter", "hgvsWellDefined": "ENSP00000357937.1:p.Arg106_Gly139delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267276" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "ENST00000454215.5:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000412156.1:p.Arg162Ter", "hgvsWellDefined": "ENSP00000412156.1:p.Arg162Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302469" }, { "@id": "http://reg.genome.network/allele/PA251933", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.5:c.547C>T", "LRG_241t1:c.547C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Arg183Ter", "hgvsWellDefined": "NP_055660.1:p.Arg183_Leu907delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033518" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Arg162Ter", "hgvsWellDefined": "XP_011534583.1:p.Arg162_Leu886delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103283" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "C", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_011536281.3:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011534583.1:p.Arg162Ter", "hgvsWellDefined": "XP_011534583.1:p.Arg162_Leu886delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552427" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011591.2:c.547C>T" ], "proteinEffect": { "hgvs": "XP_016867080.1:p.Arg183Ter", "hgvsWellDefined": "XP_016867080.1:p.Arg183_Ala743delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565414" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011592.1:c.-3C>T" ], "proteinEffect": { "hgvs": "XP_016867081.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565415" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "XM_017011593.2:c.-154C>T" ], "proteinEffect": { "hgvs": "XP_016867082.1:n.-154C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565416" }, { "@id": "http://reg.genome.network/allele/PA251933", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016873", "geneNCBI_id": 9896, "geneSymbol": "FIG4", "hgvs": [ "NM_014845.6:c.547C>T" ], "proteinEffect": { "hgvs": "NP_055660.1:p.Arg183Ter", "hgvsWellDefined": "NP_055660.1:p.Arg183_Leu907delinsMetProLeuGluMetLeuLysSerGluMetThrGlnAsnArgGlnGluSerPheAspIlePheGluAspGluGlyLeuIleThrGlnGlyGlySerGlyValPheGlyIleCysSerGluProTyrMetLysTyrValTrpAsnGlyGluLeuLeuAspIleIleLysSerThrValHisArgAspTrpLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697365", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230124.8:c.547C>T" }, "RefSeq": { "hgvs": "NM_014845.6:c.547C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230124.4:p.Arg183Ter" }, "RefSeq": { "hgvs": "NP_055660.1:p.Arg183Ter" } } } } ], "type": "nucleotide" }