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}, "referenceSequence": "http://reg.genome.network/refseq/RS766079" }, { "coordinates": [ { "allele": "A", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641447.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493448.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493448.1:p.Trp23_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766089" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641464.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493438.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766101" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "G", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 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"ENSP00000493277.1:p.Trp23_Gln336delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766113" }, { "coordinates": [ { "allele": "A", "end": 80, "referenceAllele": "G", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641503.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493304.1:p.Trp23Ter", "hgvsWellDefined": 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"ENST00000641508.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493209.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493209.1:p.Trp23_Arg236delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766132" }, { "coordinates": [ { "allele": "A", "end": 106, "referenceAllele": "G", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641509.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493459.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766133" }, { "coordinates": [ { "allele": "A", "end": 76, "referenceAllele": "G", "start": 75 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641558.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493335.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766172" }, { "coordinates": [ { "allele": "A", "end": 80, "referenceAllele": "G", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641590.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493132.1:p.Trp23Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641658.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000492987.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766243" }, { "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641686.2:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493218.2:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493218.2:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766264", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.68G>A" }, "RefSeq": { "hgvs": "NM_001371596.2:c.68G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Trp23Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Trp23Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641690.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000492966.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000492966.1:p.Trp23_Glu451delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766268" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641695.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493134.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493134.1:p.Trp23_Gly237delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgThrSerCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766273" }, { "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641742.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493315.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493315.1:p.Trp23_Leu229delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766303" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "G", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641743.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493130.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493130.1:p.Trp23_Thr288delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766304" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641748.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493330.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493330.1:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766308" }, { "coordinates": [ { "allele": "A", "end": 9, "referenceAllele": "G", "start": 8 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641753.1:c.9G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766311" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641774.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000492960.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000492960.1:p.Trp23_Arg198delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766326" }, { "coordinates": [ { "allele": "A", "end": 152, "referenceAllele": "G", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641776.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493261.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493261.1:p.Trp23_Met68delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysGluMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766327" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641843.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493174.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766379" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "G", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641870.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493044.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493044.1:p.Trp23_Leu229delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766401" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641882.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493301.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493301.1:p.Trp23_Leu191delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766408" }, { "coordinates": [ { "allele": "A", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641928.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493418.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766442" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641949.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000492891.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000492891.1:p.Trp23_Asn254delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyCysIleHisGlyLeuValAsnSerIleTrpLysTrpSerProAspSerTrpAlaTyrValHisGlnProSerValCysSerLeuGlyThrThrMetGlyIleGlnProGlyValTrpAsnAsnSerAlaHisHisHisProProGlySerGlyLeuGlnLysThrHisCysSerPheCysLysIleTrpGluAspSerGlyIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766455" }, { "coordinates": [ { "allele": "A", "end": 93, "referenceAllele": "G", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642034.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493285.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493285.1:p.Trp23_Gln298delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766514" }, { "coordinates": [ { "allele": "A", "end": 115, "referenceAllele": "G", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642042.1:c.68G>A" ], "proteinEffect": { "hgvs": "ENSP00000493260.1:p.Trp23Ter", "hgvsWellDefined": "ENSP00000493260.1:p.Trp23_Pro455delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766521" }, { "coordinates": [ { "allele": "A", "end": 97, "referenceAllele": "G", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642078.1:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000492885.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766546" }, { "coordinates": [ { "allele": "A", "end": 4, "referenceAllele": "G", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642121.1:n.4G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766571" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "G", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000296468.7:c.68G>A" ], "proteinEffect": { "hgvs": 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"http://reg.genome.network/refseq/RS340504" }, { "coordinates": [ { "allele": "A", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000513559.5:c.-68G>A" ], "proteinEffect": { "hgvs": "ENSP00000425000.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS343275" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000515130.5:n.514G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344445" }, { "@id": "http://reg.genome.network/allele/PA2580526761", "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "G", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.2:c.68G>A" ], "proteinEffect": { 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"NP_689991.1:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042142" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262893.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262950.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063603" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262896.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262953.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063604" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262897.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262954.1:p.Trp23Ter", "hgvsWellDefined": "XP_005262954.1:p.Trp23_Glu451delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063605" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.2:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Trp23Ter", "hgvsWellDefined": "XP_005262955.1:p.Trp23_Gln336delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063606" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262900.2:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262957.1:p.Trp23Ter", "hgvsWellDefined": "XP_005262957.1:p.Trp23_Leu229delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063607" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531830.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_011530132.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS098862" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531831.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_011530133.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS098863" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531832.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_011530134.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523347" }, { "@id": "http://reg.genome.network/allele/PA2828088610", "coordinates": [ { "allele": "A", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.1:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Trp23Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523348" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.3:c.68G>A" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Trp23Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS535566" }, { "coordinates": [ { "allele": "A", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_017007989.1:c.68G>A" ], "proteinEffect": { "hgvs": "XP_016863478.1:p.Trp23Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828088134", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.2:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Trp23Ter", "hgvsWellDefined": "NP_001350449.1:p.Trp23_Glu451delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690673" }, { "@id": "http://reg.genome.network/allele/PA2828088610", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.2:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Trp23Ter", "hgvsWellDefined": "NP_001350450.1:p.Trp23_Glu413delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690674" }, { "coordinates": [ { "allele": "A", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371590.1:c.-68G>A" ], "proteinEffect": { "hgvs": "NP_001358519.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692982" }, { "@id": "http://reg.genome.network/allele/PA2828492732", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371591.1:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001358520.1:p.Trp23Ter", "hgvsWellDefined": "NP_001358520.1:p.Trp23_Glu521delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692983" }, { "@id": "http://reg.genome.network/allele/PA2828440261", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371592.1:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001358521.1:p.Trp23Ter", "hgvsWellDefined": "NP_001358521.1:p.Trp23_Glu520delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyArgPhePheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692984" }, { "@id": "http://reg.genome.network/allele/PA2828440754", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371593.1:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001358522.1:p.Trp23Ter", "hgvsWellDefined": "NP_001358522.1:p.Trp23_Glu480delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692985" }, { "@id": "http://reg.genome.network/allele/PA2828441645", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371594.1:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001358523.1:p.Trp23Ter", "hgvsWellDefined": "NP_001358523.1:p.Trp23_Glu469delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692986" }, { "coordinates": [ { "allele": "A", "end": 106, "referenceAllele": "G", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371595.1:c.-68G>A" ], "proteinEffect": { "hgvs": "NP_001358524.1:n.-68G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828443877", "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.68G>A" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Trp23Ter", "hgvsWellDefined": "NP_001358525.1:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.68G>A" }, "RefSeq": { "hgvs": "NM_001371596.2:c.68G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Trp23Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Trp23Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580526761", "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.68G>A" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Trp23Ter", "hgvsWellDefined": "NP_689991.1:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA2580526761", "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.68G>A" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Trp23Ter", "hgvsWellDefined": "NP_689991.1:p.Trp23_Glu518delinsAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }