{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358177028", "communityStandardTitle": [ "NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1197189[alleleid]", "alleleId": 1197189, "preferredName": "NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1206979", "RCV": [ "RCV001574809", "RCV002569076" ], "variationId": 1206979 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.128865087G>A?assembly=hg19", "id": "chr4:g.128865087G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.127943932G>A?assembly=hg38", "id": "chr4:g.127943932G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1300341137", "rs": 1300341137 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-127943932-G-A?dataset=gnomad_r4", "id": "4-127943932-G-A", "variant": "4:127943932 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 127943932, "referenceAllele": "G", "start": 127943931 } ], "hgvs": [ "NC_000004.12:g.127943932G>A", "CM000666.2:g.127943932G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 128865087, "referenceAllele": "G", "start": 128865086 } ], "hgvs": [ "NC_000004.11:g.128865087G>A", "CM000666.1:g.128865087G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 129084537, "referenceAllele": "G", "start": 129084536 } ], "hgvs": [ "NC_000004.10:g.129084537G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 27053, "referenceAllele": "C", "start": 27052 } ], "hgvs": [ "NG_008657.1:g.27053C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001150" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000296468.8:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000296468.3:p.Gln87Ter", "hgvsWellDefined": "ENSP00000296468.3:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744420" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000505284.6:n.475C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758047" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000508441.2:n.274C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758141" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000509826.2:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000421176.2:p.Gln87Ter", "hgvsWellDefined": "ENSP00000421176.2:p.Gln87_Arg236delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758193" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000513559.6:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000425000.2:p.Gln42Ter", "hgvsWellDefined": "ENSP00000425000.2:p.Gln42_Glu424delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758326" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000515130.6:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493056.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493056.1:p.Gln42_Gln291delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758377" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641025.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493346.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493346.1:p.Gln87_Gln336delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765790" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641092.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493392.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493392.1:p.Gln87_Gln269delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765837" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641133.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493192.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493192.1:p.Gln87_Glu268delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGlnAspLeuThrLeuLeuLeuArgLeuGluGlySerGlyThrIleSerAlaGlnCysAsnLeuHisLeuProAspSerArgIleLeuIleProGlnLeuProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765868" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641134.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000492925.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000492925.1:p.Gln42_Leu184delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765869" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641140.1:n.345C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765874" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641147.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493133.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493133.1:p.Gln42_Glu368delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765881" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641178.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000492989.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000492989.1:p.Gln42_Glu473delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765900" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641186.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493347.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493347.1:p.Gln87_Glu480delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765905" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641228.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493194.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493194.1:p.Gln87_Gln269delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765936" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641243.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493083.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493083.1:p.Gln87_Leu229delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765949" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641264.1:c.*56C>T" ], "proteinEffect": { "hgvs": "ENSP00000492908.1:n.*56C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765963" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641332.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493397.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493397.1:p.Gln87_Leu229delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766011" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641340.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493191.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493191.1:p.Gln87_Arg236delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766015" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "-", "endIntronOffset": 1773, "referenceAllele": "C", "start": 82, "startIntronDirection": "-", "startIntronOffset": 1774 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641369.1:c.-65-1774C>T" ], "proteinEffect": { "hgvs": "ENSP00000493037.1:n.-65-1774C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766035" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641393.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493197.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493197.1:p.Gln42_Glu368delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766053" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641397.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493406.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493406.1:p.Gln87_Gln231delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766056" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641434.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493279.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493279.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766079" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641447.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493448.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493448.1:p.Gln87_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766089" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641464.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493438.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493438.1:p.Gln42_Arg153delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766101" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641482.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493277.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493277.1:p.Gln87_Gln336delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766113" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641503.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493304.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493304.1:p.Gln87_Thr250delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766128" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641508.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493209.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493209.1:p.Gln87_Arg236delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766132" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641509.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493459.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493459.1:p.Gln87_Glu413delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766133" }, { "coordinates": [ { "allele": "T", "end": 105, "referenceAllele": "C", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641538.1:c.105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766155" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641558.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493335.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493335.1:p.Gln42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766172" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641590.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493132.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493132.1:p.Gln87_Gln298delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766193" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641658.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000492987.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000492987.1:p.Gln42_Leu184delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766243" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641686.2:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493218.2:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493218.2:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766264", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.259C>T" }, "RefSeq": { "hgvs": "NM_001371596.2:c.259C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Gln87Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Gln87Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641690.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000492966.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000492966.1:p.Gln87_Glu451delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766268" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641695.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493134.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493134.1:p.Gln87_Gly237delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgThrSerCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766273" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641742.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493315.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493315.1:p.Gln87_Leu229delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766303" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641743.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493130.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493130.1:p.Gln87_Thr288delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766304" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641748.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493330.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493330.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766308" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641753.1:c.200C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766311" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641774.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000492960.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000492960.1:p.Gln87_Arg198delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766326" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "-", "endIntronOffset": 1773, "referenceAllele": "C", "start": 282, "startIntronDirection": "-", "startIntronOffset": 1774 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641776.1:c.199-1774C>T" ], "proteinEffect": { "hgvs": "ENSP00000493261.1:n.199-1774C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766327" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641843.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493174.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493174.1:p.Gln42_Leu146delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766379" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641870.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493044.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493044.1:p.Gln87_Leu229delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766401" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641882.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493301.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493301.1:p.Gln87_Leu191delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766408" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641928.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000493418.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000493418.1:p.Gln42_Arg153delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766442" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641949.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000492891.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000492891.1:p.Gln87_Asn254delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyCysIleHisGlyLeuValAsnSerIleTrpLysTrpSerProAspSerTrpAlaTyrValHisGlnProSerValCysSerLeuGlyThrThrMetGlyIleGlnProGlyValTrpAsnAsnSerAlaHisHisHisProProGlySerGlyLeuGlnLysThrHisCysSerPheCysLysIleTrpGluAspSerGlyIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766455" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642034.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493285.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493285.1:p.Gln87_Gln298delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766514" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642042.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000493260.1:p.Gln87Ter", "hgvsWellDefined": "ENSP00000493260.1:p.Gln87_Pro455delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766521" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642078.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000492885.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000492885.1:p.Gln42_Leu184delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766546" }, { "coordinates": [ { "allele": "T", "end": 90, "endIntronDirection": "-", "endIntronOffset": 13114, "referenceAllele": "C", "start": 90, "startIntronDirection": "-", "startIntronOffset": 13115 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642121.1:n.91-13115C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766571" }, { "coordinates": [ { "allele": "T", "end": 104, "referenceAllele": "C", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642143.1:n.104C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766583" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000296468.7:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000296468.3:p.Gln87Ter", "hgvsWellDefined": "ENSP00000296468.3:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254307" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000505284.5:n.268C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337117" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000508441.1:n.271C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339461" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000509826.1:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000421176.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000421176.1:p.Gln42_Arg153delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340504" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000513559.5:c.124C>T" ], "proteinEffect": { "hgvs": "ENSP00000425000.1:p.Gln42Ter", "hgvsWellDefined": "ENSP00000425000.1:p.Gln42_Glu473delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343275" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000515130.5:n.705C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344445" }, { "@id": "http://reg.genome.network/allele/PA2499299151", "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.2:c.259C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Gln87Ter", "hgvsWellDefined": "NP_689991.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042142" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262893.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262950.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262950.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063603" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262896.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262953.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262953.1:p.Gln87_Glu469delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063604" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262897.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262954.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262954.1:p.Gln87_Glu451delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063605" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.2:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262955.1:p.Gln87_Gln336delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063606" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262900.2:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262957.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262957.1:p.Gln87_Leu229delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063607" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531830.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_011530132.1:p.Gln87Ter", "hgvsWellDefined": "XP_011530132.1:p.Gln87_Glu480delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098862" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531831.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_011530133.1:p.Gln87Ter", "hgvsWellDefined": "XP_011530133.1:p.Gln87_Glu413delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098863" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531832.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_011530134.1:p.Gln87Ter", "hgvsWellDefined": "XP_011530134.1:p.Gln87_Gln298delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098864" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133415" }, { "@id": "http://reg.genome.network/allele/PA2828088208", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Gln87Ter", "hgvsWellDefined": "NP_001350449.1:p.Gln87_Glu451delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523347" }, { "@id": "http://reg.genome.network/allele/PA2828088684", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Gln87Ter", "hgvsWellDefined": "NP_001350450.1:p.Gln87_Glu413delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523348" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.3:c.259C>T" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Gln87Ter", "hgvsWellDefined": "XP_005262955.1:p.Gln87_Gln336delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535566" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_017007989.1:c.259C>T" ], "proteinEffect": { "hgvs": "XP_016863478.1:p.Gln87Ter", "hgvsWellDefined": "XP_016863478.1:p.Gln87_Gln269delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562614" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453981.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_024309749.1:p.Gln42Ter", "hgvsWellDefined": "XP_024309749.1:p.Gln42_Glu473delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587353" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453982.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_024309750.1:p.Gln42Ter", "hgvsWellDefined": "XP_024309750.1:p.Gln42_Glu435delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587354" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453983.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_024309751.1:p.Gln42Ter", "hgvsWellDefined": "XP_024309751.1:p.Gln42_Glu368delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587355" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741194.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591232" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741195.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591233" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741196.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591234" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741197.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591235" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741198.2:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591236" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741199.1:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591237" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.2:n.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612030" }, { "@id": "http://reg.genome.network/allele/PA2828088208", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.2:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Gln87Ter", "hgvsWellDefined": "NP_001350449.1:p.Gln87_Glu451delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690673" }, { "@id": "http://reg.genome.network/allele/PA2828088684", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.2:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Gln87Ter", "hgvsWellDefined": "NP_001350450.1:p.Gln87_Glu413delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690674" }, { "@id": "http://reg.genome.network/allele/PA2828492267", "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371590.1:c.124C>T" ], "proteinEffect": { "hgvs": "NP_001358519.1:p.Gln42Ter", "hgvsWellDefined": "NP_001358519.1:p.Gln42_Glu473delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692982" }, { "@id": "http://reg.genome.network/allele/PA2828492803", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371591.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001358520.1:p.Gln87Ter", "hgvsWellDefined": "NP_001358520.1:p.Gln87_Glu521delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692983" }, { "@id": "http://reg.genome.network/allele/PA2828440353", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371592.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001358521.1:p.Gln87Ter", "hgvsWellDefined": "NP_001358521.1:p.Gln87_Glu520delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyArgPhePheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692984" }, { "@id": "http://reg.genome.network/allele/PA2828440843", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371593.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001358522.1:p.Gln87Ter", "hgvsWellDefined": "NP_001358522.1:p.Gln87_Glu480delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692985" }, { "@id": "http://reg.genome.network/allele/PA2828441886", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371594.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001358523.1:p.Gln87Ter", "hgvsWellDefined": "NP_001358523.1:p.Gln87_Glu469delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692986" }, { "@id": "http://reg.genome.network/allele/PA2828442877", "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371595.1:c.124C>T" ], "proteinEffect": { "hgvs": "NP_001358524.1:p.Gln42Ter", "hgvsWellDefined": "NP_001358524.1:p.Gln42_Glu424delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828444051", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Gln87Ter", "hgvsWellDefined": "NP_001358525.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.259C>T" }, "RefSeq": { "hgvs": "NM_001371596.2:c.259C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Gln87Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Gln87Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499299151", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.259C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Gln87Ter", "hgvsWellDefined": "NP_689991.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA2499299151", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.259C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Gln87Ter", "hgvsWellDefined": "NP_689991.1:p.Gln87_Glu518delinsMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }