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"start": 85 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641397.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493406.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493406.1:p.Leu26_Gln231delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766056" }, { "coordinates": [ { "allele": "G", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766079" }, { "coordinates": [ { "allele": "G", "end": 208, "referenceAllele": "T", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641447.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493448.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493448.1:p.Leu26_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766089" }, { "coordinates": [ { "allele": "G", "end": 103, "referenceAllele": "T", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641464.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000493438.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766101" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "T", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641482.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493277.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493277.1:p.Leu26_Gln336delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766113" }, { "coordinates": [ { "allele": "G", "end": 89, "referenceAllele": "T", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641503.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493304.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493304.1:p.Leu26_Thr250delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766128" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "T", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641508.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493209.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493209.1:p.Leu26_Arg236delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766132" }, { "coordinates": [ { "allele": "G", "end": 115, "referenceAllele": "T", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641509.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493459.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493459.1:p.Leu26_Glu413delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766133" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "T", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641558.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000493335.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766172" }, { "coordinates": [ { "allele": "G", "end": 89, "referenceAllele": "T", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641590.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493132.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493132.1:p.Leu26_Gln298delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766193" }, { "coordinates": [ { "allele": "G", "end": 68, "referenceAllele": "T", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641658.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000492987.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766243" }, { "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641686.2:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493218.2:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493218.2:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766264", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.77T>G" }, "RefSeq": { "hgvs": "NM_001371596.2:c.77T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Leu26Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Leu26Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641690.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000492966.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000492966.1:p.Leu26_Glu451delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766268" }, { "coordinates": [ { "allele": "G", "end": 108, "referenceAllele": "T", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641695.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493134.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493134.1:p.Leu26_Gly237delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgThrSerCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766273" }, { "coordinates": [ { "allele": "G", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641742.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493315.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493315.1:p.Leu26_Leu229delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766303" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "T", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641743.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493130.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493130.1:p.Leu26_Thr288delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766304" }, { "coordinates": [ { "allele": "G", "end": 134, "referenceAllele": "T", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641748.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493330.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493330.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766308" }, { "coordinates": [ { "allele": "G", "end": 18, "referenceAllele": "T", "start": 17 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641753.1:c.18T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766311" }, { "coordinates": [ { "allele": "G", "end": 108, "referenceAllele": "T", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641774.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000492960.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000492960.1:p.Leu26_Arg198delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766326" }, { "coordinates": [ { "allele": "G", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641776.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493261.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493261.1:p.Leu26_Met68delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysGluMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766327" }, { "coordinates": [ { "allele": "G", "end": 68, "referenceAllele": "T", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641843.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000493174.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766379" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "T", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641870.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493044.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493044.1:p.Leu26_Leu229delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766401" }, { "coordinates": [ { "allele": "G", "end": 195, "referenceAllele": "T", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641882.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493301.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493301.1:p.Leu26_Leu191delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766408" }, { "coordinates": [ { "allele": "G", "end": 82, "referenceAllele": "T", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641928.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000493418.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766442" }, { "coordinates": [ { "allele": "G", "end": 108, "referenceAllele": "T", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000641949.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000492891.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000492891.1:p.Leu26_Asn254delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyCysIleHisGlyLeuValAsnSerIleTrpLysTrpSerProAspSerTrpAlaTyrValHisGlnProSerValCysSerLeuGlyThrThrMetGlyIleGlnProGlyValTrpAsnAsnSerAlaHisHisHisProProGlySerGlyLeuGlnLysThrHisCysSerPheCysLysIleTrpGluAspSerGlyIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766455" }, { "coordinates": [ { "allele": "G", "end": 102, "referenceAllele": "T", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642034.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493285.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493285.1:p.Leu26_Gln298delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766514" }, { "coordinates": [ { "allele": "G", "end": 124, "referenceAllele": "T", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642042.1:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000493260.1:p.Leu26Ter", "hgvsWellDefined": "ENSP00000493260.1:p.Leu26_Pro455delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766521" }, { "coordinates": [ { "allele": "G", "end": 106, "referenceAllele": "T", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642078.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000492885.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766546" }, { "coordinates": [ { "allele": "G", "end": 13, "referenceAllele": "T", "start": 12 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000642121.1:n.13T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766571" }, { "coordinates": [ { "allele": "G", "end": 205, "referenceAllele": "T", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000296468.7:c.77T>G" ], "proteinEffect": { "hgvs": "ENSP00000296468.3:p.Leu26Ter", "hgvsWellDefined": "ENSP00000296468.3:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254307" }, { "coordinates": [ { "allele": "G", "end": 86, "referenceAllele": "T", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000505284.5:n.86T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS337117" }, { "coordinates": [ { "allele": "G", "end": 89, "referenceAllele": "T", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000508441.1:n.89T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS339461" }, { "coordinates": [ { "allele": "G", "end": 57, "referenceAllele": "T", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000509826.1:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000421176.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS340504" }, { "coordinates": [ { "allele": "G", "end": 82, "referenceAllele": "T", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000513559.5:c.-59T>G" ], "proteinEffect": { "hgvs": "ENSP00000425000.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS343275" }, { "coordinates": [ { "allele": "G", "end": 523, "referenceAllele": "T", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "ENST00000515130.5:n.523T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS344445" }, { "@id": "http://reg.genome.network/allele/PA2573304678", "coordinates": [ { "allele": "G", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.2:c.77T>G" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Leu26Ter", "hgvsWellDefined": "NP_689991.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042142" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262893.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262950.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262950.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063603" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262896.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262953.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262953.1:p.Leu26_Glu469delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063604" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262897.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262954.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262954.1:p.Leu26_Glu451delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063605" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.2:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262955.1:p.Leu26_Gln336delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063606" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262900.2:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262957.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262957.1:p.Leu26_Leu229delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluAsnIleValTrpMetThrGlnGluAspSerValLysValLeuIleLeuLysLysGlnValGlnMetLysLeuArgPheProLysGluIleLeuThrArgLeuLeuLeuTrpProSerMetPheCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063607" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531830.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_011530132.1:p.Leu26Ter", "hgvsWellDefined": "XP_011530132.1:p.Leu26_Glu480delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098862" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531831.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_011530133.1:p.Leu26Ter", "hgvsWellDefined": "XP_011530133.1:p.Leu26_Glu413delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098863" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_011531832.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_011530134.1:p.Leu26Ter", "hgvsWellDefined": "XP_011530134.1:p.Leu26_Gln298delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098864" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS133415" }, { "@id": "http://reg.genome.network/allele/PA2828088140", "coordinates": [ { "allele": "G", "end": 199, "referenceAllele": "T", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Leu26Ter", "hgvsWellDefined": "NP_001350449.1:p.Leu26_Glu451delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523347" }, { "@id": "http://reg.genome.network/allele/PA2828088617", "coordinates": [ { "allele": "G", "end": 199, "referenceAllele": "T", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Leu26Ter", "hgvsWellDefined": "NP_001350450.1:p.Leu26_Glu413delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523348" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_005262898.3:c.77T>G" ], "proteinEffect": { "hgvs": "XP_005262955.1:p.Leu26Ter", "hgvsWellDefined": "XP_005262955.1:p.Leu26_Gln336delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535566" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_017007989.1:c.77T>G" ], "proteinEffect": { "hgvs": "XP_016863478.1:p.Leu26Ter", "hgvsWellDefined": "XP_016863478.1:p.Leu26_Gln269delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562614" }, { "coordinates": [ { "allele": "G", "end": 151, "referenceAllele": "T", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453981.1:c.-59T>G" ], "proteinEffect": { "hgvs": "XP_024309749.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS587353" }, { "coordinates": [ { "allele": "G", "end": 107, "referenceAllele": "T", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453982.1:c.-59T>G" ], "proteinEffect": { "hgvs": "XP_024309750.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS587354" }, { "coordinates": [ { "allele": "G", "end": 107, "referenceAllele": "T", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XM_024453983.1:c.-59T>G" ], "proteinEffect": { "hgvs": "XP_024309751.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS587355" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741194.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591232" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741195.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591233" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741196.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591234" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741197.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591235" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741198.2:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591236" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_001741199.1:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591237" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "XR_938717.2:n.154T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS612030" }, { "@id": "http://reg.genome.network/allele/PA2828088140", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363520.2:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001350449.1:p.Leu26Ter", "hgvsWellDefined": "NP_001350449.1:p.Leu26_Glu451delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690673" }, { "@id": "http://reg.genome.network/allele/PA2828088617", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001363521.2:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001350450.1:p.Leu26Ter", "hgvsWellDefined": "NP_001350450.1:p.Leu26_Glu413delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690674" }, { "coordinates": [ { "allele": "G", "end": 82, "referenceAllele": "T", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371590.1:c.-59T>G" ], "proteinEffect": { "hgvs": "NP_001358519.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS692982" }, { "@id": "http://reg.genome.network/allele/PA2828492736", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371591.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001358520.1:p.Leu26Ter", "hgvsWellDefined": "NP_001358520.1:p.Leu26_Glu521delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692983" }, { "@id": "http://reg.genome.network/allele/PA2828440265", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371592.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001358521.1:p.Leu26Ter", "hgvsWellDefined": "NP_001358521.1:p.Leu26_Glu520delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyArgPhePheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692984" }, { "@id": "http://reg.genome.network/allele/PA2828440761", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371593.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001358522.1:p.Leu26Ter", "hgvsWellDefined": "NP_001358522.1:p.Leu26_Glu480delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692985" }, { "@id": "http://reg.genome.network/allele/PA2828441699", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371594.1:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001358523.1:p.Leu26Ter", "hgvsWellDefined": "NP_001358523.1:p.Leu26_Glu469delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692986" }, { "coordinates": [ { "allele": "G", "end": 115, "referenceAllele": "T", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371595.1:c.-59T>G" ], "proteinEffect": { "hgvs": "NP_001358524.1:n.-59T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828443884", "coordinates": [ { "allele": "G", "end": 117, "referenceAllele": "T", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.77T>G" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Leu26Ter", "hgvsWellDefined": "NP_001358525.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.77T>G" }, "RefSeq": { "hgvs": "NM_001371596.2:c.77T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Leu26Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Leu26Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573304678", "coordinates": [ { "allele": "G", "end": 219, "referenceAllele": "T", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.77T>G" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Leu26Ter", "hgvsWellDefined": "NP_689991.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA2573304678", "coordinates": [ { "allele": "G", "end": 219, "referenceAllele": "T", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.77T>G" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Leu26Ter", "hgvsWellDefined": "NP_689991.1:p.Leu26_Glu518delinsGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }