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"NP_001358522.1:p.Leu287Ter", "hgvsWellDefined": "NP_001358522.1:p.Leu287_Glu480delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692985" }, { "@id": "http://reg.genome.network/allele/PA2828442323", "coordinates": [ { "allele": "G", "end": 867, "referenceAllele": "T", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371594.1:c.827T>G" ], "proteinEffect": { "hgvs": "NP_001358523.1:p.Leu276Ter", "hgvsWellDefined": "NP_001358523.1:p.Leu276_Glu469delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692986" }, { "@id": "http://reg.genome.network/allele/PA2828443248", "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "T", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371595.1:c.692T>G" ], "proteinEffect": { "hgvs": "NP_001358524.1:p.Leu231Ter", "hgvsWellDefined": "NP_001358524.1:p.Leu231_Glu424delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828444591", "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "T", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.974T>G" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Leu325Ter", "hgvsWellDefined": "NP_001358525.1:p.Leu325_Glu518delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.974T>G" }, "RefSeq": { "hgvs": "NM_001371596.2:c.974T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Leu325Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Leu325Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830293870", "coordinates": [ { "allele": "G", "end": 1116, "referenceAllele": "T", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.974T>G" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Leu325Ter", "hgvsWellDefined": "NP_689991.1:p.Leu325_Glu518delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA2830293870", "coordinates": [ { "allele": "G", "end": 1116, "referenceAllele": "T", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.974T>G" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Leu325Ter", "hgvsWellDefined": "NP_689991.1:p.Leu325_Glu518delinsGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }