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], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641434.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493279.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766079" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641447.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493448.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493448.1:p.Arg35_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766089" }, { "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641464.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000493438.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766101" }, { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 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"ENSP00000493277.1:p.Arg35_Gln336delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766113" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641503.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493304.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766133" }, { "coordinates": [ { "allele": "T", "end": 111, "referenceAllele": "C", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641558.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000493335.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766172" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641590.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493132.1:p.Arg35Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641658.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000492987.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766243" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641686.2:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493218.2:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493218.2:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766264", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.103C>T" }, "RefSeq": { "hgvs": "NM_001371596.2:c.103C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Arg35Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Arg35Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641690.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000492966.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000492966.1:p.Arg35_Glu451delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766268" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641695.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493134.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493134.1:p.Arg35_Gly237delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgThrSerCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766273" }, { "coordinates": [ { "allele": "T", "end": 149, "referenceAllele": "C", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641742.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493315.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493315.1:p.Arg35_Leu229delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766303" }, { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641743.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493130.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493130.1:p.Arg35_Thr288delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766304" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641748.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493330.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493330.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766308" }, { "coordinates": [ { "allele": "T", "end": 44, "referenceAllele": "C", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641753.1:c.44C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766311" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641774.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000492960.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000492960.1:p.Arg35_Arg198delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766326" }, { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "C", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641776.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493261.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493261.1:p.Arg35_Met68delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysGluMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766327" }, { "coordinates": [ { "allele": "T", "end": 94, "referenceAllele": "C", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641843.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000493174.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766379" }, { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641870.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493044.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493044.1:p.Arg35_Leu229delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766401" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641882.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493301.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493301.1:p.Arg35_Leu191delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766408" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "C", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641928.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000493418.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766442" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641949.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000492891.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000492891.1:p.Arg35_Asn254delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyCysIleHisGlyLeuValAsnSerIleTrpLysTrpSerProAspSerTrpAlaTyrValHisGlnProSerValCysSerLeuGlyThrThrMetGlyIleGlnProGlyValTrpAsnAsnSerAlaHisHisHisProProGlySerGlyLeuGlnLysThrHisCysSerPheCysLysIleTrpGluAspSerGlyIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766455" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "C", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642034.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493285.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493285.1:p.Arg35_Gln298delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766514" }, { "coordinates": [ { "allele": "T", "end": 150, "referenceAllele": "C", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642042.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000493260.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000493260.1:p.Arg35_Pro455delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766521" }, { "coordinates": [ { "allele": "T", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642078.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000492885.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766546" }, { "coordinates": [ { "allele": "T", "end": 39, "referenceAllele": "C", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642121.1:n.39C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766571" }, { "coordinates": [ { "allele": "T", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000296468.7:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000296468.3:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254307" }, { "coordinates": [ { "allele": "T", "end": 112, "referenceAllele": "C", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000505284.5:n.112C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337117" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000508441.1:n.115C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339461" }, { "coordinates": [ { "allele": "T", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000509826.1:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000421176.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS340504" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "C", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000513559.5:c.-33C>T" ], "proteinEffect": { "hgvs": "ENSP00000425000.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS343275" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000515130.5:n.549C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344445" }, { "@id": "http://reg.genome.network/allele/PA1139764395", "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.2:c.103C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Arg35Ter", "hgvsWellDefined": "NP_689991.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042142" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262893.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262950.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262950.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063603" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262896.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262953.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262953.1:p.Arg35_Glu469delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063604" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262897.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262954.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262954.1:p.Arg35_Glu451delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063605" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.2:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262955.1:p.Arg35_Gln336delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063606" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262900.2:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262957.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262957.1:p.Arg35_Leu229delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063607" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531830.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_011530132.1:p.Arg35Ter", "hgvsWellDefined": "XP_011530132.1:p.Arg35_Glu480delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098862" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531831.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_011530133.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS098863" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531832.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_011530134.1:p.Arg35Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.1:n.180C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133415" }, { "@id": "http://reg.genome.network/allele/PA2828088148", "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523348" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.3:c.103C>T" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Arg35Ter", "hgvsWellDefined": "XP_005262955.1:p.Arg35_Gln336delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535566" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_017007989.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_016863478.1:p.Arg35Ter", "hgvsWellDefined": 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"XR_001741197.1:n.180C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591235" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741198.2:n.180C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591236" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741199.1:n.180C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591237" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.2:n.180C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612030" }, { "@id": "http://reg.genome.network/allele/PA2828088148", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.2:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Arg35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690673" }, { "@id": "http://reg.genome.network/allele/PA2828088626", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.2:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Arg35Ter", "hgvsWellDefined": "NP_001350450.1:p.Arg35_Glu413delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690674" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "C", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371590.1:c.-33C>T" ], "proteinEffect": { "hgvs": "NP_001358519.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS692982" }, { "@id": "http://reg.genome.network/allele/PA2828492745", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371591.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001358520.1:p.Arg35Ter", "hgvsWellDefined": "NP_001358520.1:p.Arg35_Glu521delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692983" }, { "@id": "http://reg.genome.network/allele/PA2828440276", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371592.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001358521.1:p.Arg35Ter", "hgvsWellDefined": "NP_001358521.1:p.Arg35_Glu520delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyArgPhePheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692984" }, { "@id": "http://reg.genome.network/allele/PA2828440771", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371593.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001358522.1:p.Arg35Ter", "hgvsWellDefined": "NP_001358522.1:p.Arg35_Glu480delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692985" }, { "@id": "http://reg.genome.network/allele/PA2828441726", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371594.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001358523.1:p.Arg35Ter", "hgvsWellDefined": "NP_001358523.1:p.Arg35_Glu469delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692986" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "C", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371595.1:c.-33C>T" ], "proteinEffect": { "hgvs": "NP_001358524.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828443900", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Arg35Ter", "hgvsWellDefined": "NP_001358525.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.103C>T" }, "RefSeq": { "hgvs": "NM_001371596.2:c.103C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Arg35Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Arg35Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139764395", "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.103C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Arg35Ter", "hgvsWellDefined": "NP_689991.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA1139764395", "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.103C>T" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Arg35Ter", "hgvsWellDefined": "NP_689991.1:p.Arg35_Glu518delinsTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }