{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339860", "communityStandardTitle": [ "NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16055[alleleid]", "alleleId": 16055, "preferredName": "NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1016", "RCV": [ "RCV000001071", "RCV001248027" ], "variationId": 1016 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-32754344-C-T", "id": "12-32754344-C-T", "variant": "12:32754344 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.32754344C>T?assembly=hg19", "id": "chr12:g.32754344C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.32601410C>T?assembly=hg38", "id": "chr12:g.32601410C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203974", "rs": 118203974 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32754344-C-T?dataset=gnomad_r2_1", "id": "12-32754344-C-T", "variant": "12:32754344 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32601410-C-T?dataset=gnomad_r3", "id": "12-32601410-C-T", "variant": "12:32601410 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32601410-C-T?dataset=gnomad_r4", "id": "12-32601410-C-T", "variant": "12:32601410 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 32601410, "referenceAllele": "C", "start": 32601409 } ], "hgvs": [ "NC_000012.12:g.32601410C>T", "CM000674.2:g.32601410C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 32754344, "referenceAllele": "C", "start": 32754343 } ], "hgvs": [ "NC_000012.11:g.32754344C>T", "CM000674.1:g.32754344C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 32645611, "referenceAllele": "C", "start": 32645610 } ], "hgvs": [ "NC_000012.10:g.32645611C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 206882, "referenceAllele": "C", "start": 206881 } ], "hgvs": [ "NG_008626.2:g.206882C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001133" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000427716.7:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000394487.2:p.Arg275Ter", "hgvsWellDefined": "ENSP00000394487.2:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824791" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.7:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Arg360Ter", "hgvsWellDefined": "ENSP00000431323.1:p.Arg360_Cys851delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825798" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000583694.2:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000462623.2:p.Arg275Ter", "hgvsWellDefined": "ENSP00000462623.2:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826223" }, { "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "C", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000682739.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000507616.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000507616.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827728" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000683182.1:c.-227C>T" ], "proteinEffect": { "hgvs": "ENSP00000507831.1:n.-227C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828166" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000683515.1:n.330C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828489" }, { "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000525053.6:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000433666.2:p.Arg275Ter", "hgvsWellDefined": "ENSP00000433666.2:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758894" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.6:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Arg360Ter", "hgvsWellDefined": "ENSP00000431323.1:p.Arg360_Cys851delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759219" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000534526.7:c.1234C>T" ], "proteinEffect": { "hgvs": "ENSP00000449273.1:p.Arg412Ter", "hgvsWellDefined": "ENSP00000449273.1:p.Arg412_Cys903delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759401", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534526.7:c.1234C>T" }, "RefSeq": { "hgvs": "NM_001370298.3:c.1234C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000449273.1:p.Arg412Ter" }, "RefSeq": { "hgvs": "NP_001357227.2:p.Arg412Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000395740.5:c.*215C>T" ], "proteinEffect": { "hgvs": "ENSP00000379089.1:n.*215C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276871" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000427716.6:c.823C>T" ], "proteinEffect": { "hgvs": "ENSP00000394487.2:p.Arg275Ter", "hgvsWellDefined": "ENSP00000394487.2:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289833" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000493087.5:c.*215C>T" ], "proteinEffect": { "hgvs": "ENSP00000437109.1:n.*215C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS330317" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000494977.1:c.412C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331781" }, { "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000525053.5:c.1159C>T" ], "proteinEffect": { "hgvs": "ENSP00000433666.1:p.Arg387Ter", "hgvsWellDefined": "ENSP00000433666.1:p.Arg387_Cys878delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS351129" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.5:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Arg360Ter", "hgvsWellDefined": "ENSP00000431323.1:p.Arg360_Cys851delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356279" }, { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000534526.6:c.1234C>T" ], "proteinEffect": { "hgvs": "ENSP00000449273.1:p.Arg412Ter", "hgvsWellDefined": "ENSP00000449273.1:p.Arg412_Cys903delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359124" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000546442.5:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000446695.1:p.Arg182Ter", "hgvsWellDefined": "ENSP00000446695.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365642" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000551984.5:c.*192C>T" ], "proteinEffect": { "hgvs": "ENSP00000449614.1:n.*192C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS368981" }, { "@id": "http://reg.genome.network/allele/PA645445313", "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304480.1:c.1159C>T" ], "proteinEffect": { "hgvs": "NP_001291409.1:p.Arg387Ter", "hgvsWellDefined": "NP_001291409.1:p.Arg387_Cys878delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025713" }, { "@id": "http://reg.genome.network/allele/PA2826892448", "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304481.1:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001291410.1:p.Arg360Ter", "hgvsWellDefined": "NP_001291410.1:p.Arg360_Cys851delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025714" }, { "@id": "http://reg.genome.network/allele/PA2826893586", "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304483.1:c.79C>T" ], "proteinEffect": { "hgvs": "NP_001291412.1:p.Arg27Ter", "hgvsWellDefined": "NP_001291412.1:p.Arg27_His471delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnValSerLysProHisLeuSerGluGlyThrAspAlaLeuGlyGlyLysGlyLysArgValAspSerGlyLeuLysIleCysArgThrArgValGlnAlaValSerLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025716" }, { "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304484.1:c.-229C>T" ], "proteinEffect": { "hgvs": "NP_001291413.1:n.-229C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS025717" }, { "@id": "http://reg.genome.network/allele/PA339861", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_139241.3:c.823C>T" ], "proteinEffect": { "hgvs": "NP_640334.2:p.Arg275Ter", "hgvsWellDefined": "NP_640334.2:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041032" }, { "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253304.3:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_005253361.1:p.Arg439Ter", "hgvsWellDefined": "XP_005253361.1:p.Arg439_Cys930delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060242" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253307.2:c.544C>T" ], "proteinEffect": { "hgvs": "XP_005253364.1:p.Arg182Ter", "hgvsWellDefined": "XP_005253364.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060243" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253308.3:c.544C>T" ], "proteinEffect": { "hgvs": "XP_005253365.1:p.Arg182Ter", "hgvsWellDefined": "XP_005253365.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060244" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253309.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_005253366.1:p.Arg182Ter", "hgvsWellDefined": "XP_005253366.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060245" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253310.3:c.79C>T" ], "proteinEffect": { "hgvs": "XP_005253367.1:p.Arg27Ter", "hgvsWellDefined": "XP_005253367.1:p.Arg27_Cys518delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060246" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520554.1:c.1117C>T" ], "proteinEffect": { "hgvs": "XP_011518856.1:p.Arg373Ter", "hgvsWellDefined": "XP_011518856.1:p.Arg373_Cys864delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087721" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520555.1:c.823C>T" ], "proteinEffect": { "hgvs": "XP_011518857.1:p.Arg275Ter", "hgvsWellDefined": "XP_011518857.1:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087722" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520556.1:c.823C>T" ], "proteinEffect": { "hgvs": "XP_011518858.1:p.Arg275Ter", "hgvsWellDefined": "XP_011518858.1:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087723" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520557.1:c.271C>T" ], "proteinEffect": { "hgvs": "XP_011518859.1:p.Arg91Ter", "hgvsWellDefined": "XP_011518859.1:p.Arg91_Cys582delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087724" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520558.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011518860.1:p.Arg76Ter", "hgvsWellDefined": "XP_011518860.1:p.Arg76_Cys567delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087725" }, { "coordinates": [ { "allele": "T", "end": 153, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 153, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520559.1:c.71+76C>T" ], "proteinEffect": { "hgvs": "XP_011518861.1:n.71+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087726" }, { "@id": "http://reg.genome.network/allele/PA2827307963", "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330373.1:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001317302.1:p.Arg182Ter", "hgvsWellDefined": "NP_001317302.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516754" }, { "@id": "http://reg.genome.network/allele/PA2827308489", "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330374.1:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001317303.1:p.Arg182Ter", "hgvsWellDefined": "NP_001317303.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516755" }, { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253304.4:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_005253361.1:p.Arg439Ter", "hgvsWellDefined": "XP_005253361.1:p.Arg439_Cys930delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533941" }, { "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253308.5:c.544C>T" ], "proteinEffect": { "hgvs": "XP_005253365.1:p.Arg182Ter", "hgvsWellDefined": "XP_005253365.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533942" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253310.4:c.79C>T" ], "proteinEffect": { "hgvs": "XP_005253367.1:p.Arg27Ter", "hgvsWellDefined": "XP_005253367.1:p.Arg27_Cys518delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533943" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520558.2:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011518860.1:p.Arg76Ter", "hgvsWellDefined": "XP_011518860.1:p.Arg76_Cys567delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545779" }, { "coordinates": [ { "allele": "T", "end": 155, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 155, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520559.3:c.71+76C>T" ], "proteinEffect": { "hgvs": "XP_011518861.1:n.71+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS545780" }, { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_017018803.1:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_016874292.1:p.Arg439Ter", "hgvsWellDefined": "XP_016874292.1:p.Arg439_Asn914delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570653" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_017018805.1:c.271C>T" ], "proteinEffect": { "hgvs": "XP_016874294.1:p.Arg91Ter", "hgvsWellDefined": "XP_016874294.1:p.Arg91_Cys582delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570654" }, { "coordinates": [ { "allele": "T", "end": 1636, "referenceAllele": "C", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448837.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_024304605.1:p.Arg182Ter", "hgvsWellDefined": "XP_024304605.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582404" }, { "coordinates": [ { "allele": "T", "end": 1435, "referenceAllele": "C", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448838.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_024304606.1:p.Arg182Ter", "hgvsWellDefined": "XP_024304606.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582405" }, { "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448839.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_024304607.1:p.Arg182Ter", "hgvsWellDefined": "XP_024304607.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582406" }, { "coordinates": [ { "allele": "T", "end": 398, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 398, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448840.1:c.-56+76C>T" ], "proteinEffect": { "hgvs": "XP_024304608.1:n.-56+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS582407" }, { "coordinates": [ { "allele": "T", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XR_001748576.1:n.1505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596571" }, { "@id": "http://reg.genome.network/allele/PA916048342", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370297.1:c.271C>T" ], "proteinEffect": { "hgvs": "NP_001357226.1:p.Arg91Ter", "hgvsWellDefined": "NP_001357226.1:p.Arg91_Cys582delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692304" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370298.1:c.1315C>T" ], "proteinEffect": { "hgvs": "NP_001357227.1:p.Arg439Ter", "hgvsWellDefined": "NP_001357227.1:p.Arg439_Cys930delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692305" }, { "@id": "http://reg.genome.network/allele/PA2826893586", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304483.2:c.79C>T" ], "proteinEffect": { "hgvs": "NP_001291412.1:p.Arg27Ter", "hgvsWellDefined": "NP_001291412.1:p.Arg27_His471delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnValSerLysProHisLeuSerGluGlyThrAspAlaLeuGlyGlyLysGlyLysArgValAspSerGlyLeuLysIleCysArgThrArgValGlnAlaValSerLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717101" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304484.2:c.-229C>T" ], "proteinEffect": { "hgvs": "NP_001291413.1:n.-229C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717102" }, { "@id": "http://reg.genome.network/allele/PA2827307963", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330373.2:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001317302.1:p.Arg182Ter", "hgvsWellDefined": "NP_001317302.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718663" }, { "@id": "http://reg.genome.network/allele/PA2827308489", "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330374.2:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001317303.1:p.Arg182Ter", "hgvsWellDefined": "NP_001317303.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718664" }, { "@id": "http://reg.genome.network/allele/PA2828405460", "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370298.3:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001357227.2:p.Arg412Ter", "hgvsWellDefined": "NP_001357227.2:p.Arg412_Cys903delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721168", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534526.7:c.1234C>T" }, "RefSeq": { "hgvs": "NM_001370298.3:c.1234C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000449273.1:p.Arg412Ter" }, "RefSeq": { "hgvs": "NP_001357227.2:p.Arg412Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828933224", "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384126.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001371055.1:p.Arg412Ter", "hgvsWellDefined": "NP_001371055.1:p.Arg412_Asn887delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722655" }, { "@id": "http://reg.genome.network/allele/PA2828933481", "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384127.1:c.823C>T" ], "proteinEffect": { "hgvs": "NP_001371056.1:p.Arg275Ter", "hgvsWellDefined": "NP_001371056.1:p.Arg275_Asn750delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722656" }, { "@id": "http://reg.genome.network/allele/PA2828933848", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384128.1:c.823C>T" ], "proteinEffect": { "hgvs": "NP_001371057.1:p.Arg275Ter", "hgvsWellDefined": "NP_001371057.1:p.Arg275_Asn750delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722657" }, { "@id": "http://reg.genome.network/allele/PA2828934129", "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384130.1:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001371059.1:p.Arg182Ter", "hgvsWellDefined": "NP_001371059.1:p.Arg182_Cys673delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722658" }, { "@id": "http://reg.genome.network/allele/PA2829012020", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001385118.1:c.823C>T" ], "proteinEffect": { "hgvs": "NP_001372047.1:p.Arg275Ter", "hgvsWellDefined": "NP_001372047.1:p.Arg275_Cys766delinsMetGlnGluTrpGluThrThrProArgIleGlyAspIleLeuGlnLysLeuAlaProPheLeuLysMetTyrGlyGluTyrValLysGlyPheAspAsnAlaMetGluLeuValLysAsnMetThrGluArgIleProGlnPheLysSerValValGluGluIleGlnLysGlnLysIleCysGlySerLeuThrLeuGlnHisHisMetLeuGluProValGlnArgIleProArgTyrGluMetLeuLeuLysAspTyrLeuArgLysLeuProProAspSerLeuAspTrpAsnAspAlaLysLysSerLeuGluIleIleSerThrAlaAlaSerHisSerAsnSerAlaIleArgLysMetGluAsnLeuLysLysLeuLeuGluIleTyrGluMetLeuGlyGluGluGluAspIleValAsnProSerAsnGluLeuIleLysGluGlyGlnIleLeuLysLeuAlaAlaArgAsnThrSerAlaGlnGluArgTyrLeuPheLeuPheAsnAsnMetLeuLeuTyrCysValProLysPheSerLeuValGlySerLysPheThrValArgThrArgValGlyIleAspGlyMetLysIleValGluThrGlnAsnGluGluTyrProHisThrPheGlnValSerGlyLysGluArgThrLeuGluLeuGlnAlaSerSerAlaGlnAspLysGluGluTrpIleLysAlaLeuGlnGluThrIleAspAlaPheHisGlnArgHisGluThrPheArgAsnAlaIleAlaLysAspAsnAspIleHisSerGluValSerThrAlaGluLeuGlyLysArgAlaProArgTrpIleArgAspAsnGluValThrMetCysMetLysCysLysGluProPheAsnAlaLeuThrArgArgArgHisHisCysArgAlaCysGlyTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723475" } ], "type": "nucleotide" }