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}, "referenceSequence": "http://reg.genome.network/refseq/RS364502" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "T", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000546330.1:c.95T>A" ], "proteinEffect": { "hgvs": "ENSP00000439190.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS365573" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301031.1:c.95T>A" ], "proteinEffect": { "hgvs": "NP_001287960.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS025056" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301032.1:c.95T>A" ], "proteinEffect": { "hgvs": "NP_001287961.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS025057" }, { "@id": "http://reg.genome.network/allele/PA2826860213", "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "T", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301033.1:c.95T>A" ], "proteinEffect": { "hgvs": "NP_001287962.1:p.Leu32Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025058" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "T", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_004727.2:c.95T>A" ], "proteinEffect": { "hgvs": "NP_004718.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029876" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254778.3:c.95T>A" ], "proteinEffect": { "hgvs": "XP_005254835.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060755" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254781.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_005254838.1:p.Leu32Ter", "hgvsWellDefined": "XP_005254838.1:p.Leu32_Gly717delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060756" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "T", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720764.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_006720827.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073800" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720767.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_006720830.1:p.Leu32Ter", "hgvsWellDefined": "XP_006720830.1:p.Leu32_His1030delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073801" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720768.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_006720831.1:p.Leu32Ter", "hgvsWellDefined": "XP_006720831.1:p.Leu32_Val985delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073802" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720769.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_006720832.1:p.Leu32Ter", "hgvsWellDefined": "XP_006720832.1:p.Leu32_Leu935delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073803" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "T", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522219.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520521.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089375" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522220.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520522.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089376" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522221.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520523.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089377" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522222.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520524.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520524.1:p.Leu32_His1030delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089378" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522223.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520525.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520525.1:p.Leu32_His1012delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089379" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522225.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520527.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520527.1:p.Leu32_Leu935delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089380" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522226.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520528.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520528.1:p.Leu32_Gly688delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089381" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254778.4:c.95T>A" ], "proteinEffect": { "hgvs": "XP_005254835.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS534183" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254781.4:c.95T>A" ], "proteinEffect": { "hgvs": "XP_005254838.1:p.Leu32Ter", "hgvsWellDefined": "XP_005254838.1:p.Leu32_Gly717delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534184" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720768.4:c.95T>A" ], "proteinEffect": { "hgvs": "XP_006720831.1:p.Leu32Ter", "hgvsWellDefined": "XP_006720831.1:p.Leu32_Val985delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540165" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522220.3:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520522.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546527" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522221.3:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520523.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546528" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522222.3:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520524.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520524.1:p.Leu32_His1030delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546529" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522226.3:c.95T>A" ], "proteinEffect": { "hgvs": "XP_011520528.1:p.Leu32Ter", "hgvsWellDefined": "XP_011520528.1:p.Leu32_Gly688delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546530" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_017022724.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_016878213.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573633" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_017022725.2:c.95T>A" ], "proteinEffect": { "hgvs": "XP_016878214.1:p.Leu32Ter", "hgvsWellDefined": "XP_016878214.1:p.Leu32_Ser966delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysProGlyAspGlyAlaIleAlaValAspGluLeuGlnAspAsnLysLysLeuLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerLeuAlaLeuValAlaGlnAlaGlyValGlnTrpArgAspLeuGlyThrProGlnProSerProProArgPheLysGlnPheSerCysLeuSerLeuLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573634" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450103.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_024305871.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS583644" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "T", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450104.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_024305872.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS583645" }, { "coordinates": [ { "allele": "A", "end": 929, "referenceAllele": "T", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450105.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_024305873.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS583646" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450106.1:c.95T>A" ], "proteinEffect": { "hgvs": "XP_024305874.1:p.Leu32Ter", "hgvsWellDefined": "XP_024305874.1:p.Leu32_His1012delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583647" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "T", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_004727.3:c.95T>A" ], "proteinEffect": { "hgvs": "NP_004718.1:p.Leu32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS666625", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261892.11:c.95T>A" }, "RefSeq": { "hgvs": "NM_004727.3:c.95T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261892.6:p.Leu32Ter" }, "RefSeq": { "hgvs": "NP_004718.1:p.Leu32Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826860213", "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "T", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301033.2:c.95T>A" ], "proteinEffect": { "hgvs": "NP_001287962.1:p.Leu32Ter", "hgvsWellDefined": "NP_001287962.1:p.Leu32_His1012delinsIleIleGlySerThrTyrGlnHisLeuArgArgProArgGlyLeuSerSerLeuTrpAlaAlaValSerSerHisGlnProIleLysLeuAlaSerArgAspLeuSerSerGluGluMetMetMetMetSerSerSerProSerLysProSerSerGluMetGlyGlyLysMetLeuValProGlnAlaSerValGlySerAspGluAlaThrLeuSerMetThrValGluAsnIleProSerMetProLysArgThrAlaLysMetIleProThrThrThrLysAsnAsnTyrSerProThrAlaAlaGlyThrGluArgArgLysGluAspThrProThrSerSerArgThrLeuThrTyrTyrThrSerThrSerSerArgGlnIleValLysLysTyrThrProThrProArgGlyGluMetLysSerTyrSerProThrGlnValArgGluLysValLysTyrThrProSerProArgGlyArgArgValGlyThrTyrValProSerThrPheMetThrMetGluThrSerHisAlaIleThrProArgThrThrValLysAspSerAspIleThrAlaThrTyrLysIleLeuGluThrAsnSerLeuLysArgIleMetGluGluThrThrProThrThrLeuLysGlyMetPheAspSerThrProThrPheLeuThrHisGluValGluAlaAsnValLeuThrSerProArgSerValMetGluLysAsnAsnLeuPheProProArgArgValGluSerAsnSerSerAlaHisProTrpGlyLeuValGlyLysSerAsnProLysThrProGlnGlyThrValLeuLeuHisThrProAlaThrSerGluGlyGlnValThrIleSerThrMetThrGlySerSerProAlaGluThrLysAlaPheThrAlaAlaTrpSerLeuArgAsnProSerProArgThrSerValSerAlaIleLysThrAlaProAlaIleValTrpArgLeuAlaLysLysProSerThrAlaProSerThrSerThrThrProThrValArgAlaLysLeuThrMetGlnValHisHisCysValValValLysProThrProAlaMetLeuThrThrProSerProSerLeuThrThrAlaLeuLeuProGluGluLeuSerProSerProSerValLeuProProSerLeuProAspLeuHisProLysGlyGluTyrProProAspLeuPheSerValGluGluArgArgGlnGlyTrpValValLeuHisValPheGlyMetMetTyrValPheValAlaLeuAlaIleValCysAspGluTyrPheValProAlaLeuGlyValIleThrAspLysLeuGlnIleSerGluAspValAlaGlyAlaThrPheMetAlaAlaGlyGlySerAlaProGluLeuPheThrSerLeuIleGlyValPheIleSerHisSerAsnValGlyIleGlyThrIleValGlySerAlaValPheAsnIleLeuPheValIleGlyThrCysSerLeuPheSerArgGluIleLeuAsnLeuThrTrpTrpProLeuPheArgAspValSerPheTyrIleLeuAspLeuIleMetLeuIleLeuPhePheLeuAspSerLeuIleAlaTrpTrpGluSerLeuLeuLeuLeuLeuAlaTyrAlaPheTyrValPheThrMetLysTrpAsnLysHisIleGluValTrpValLysGluGlnLeuSerArgArgProValAlaLysValMetAlaLeuGluAspLeuSerLysLeuProSerLeuLeuThrArgGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683316" } ], "type": "nucleotide" }