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"http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_005135.2:c.238A>T", "LRG_270t1:c.238A>T" ], "proteinEffect": { "hgvs": "NP_005126.1:p.Lys80Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS030257" }, { "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "A", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.1:c.391A>T", "LRG_270t2:c.391A>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Lys131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS040581" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.2:c.391A>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Lys131Ter", "hgvsWellDefined": "XP_006720856.1:p.Lys131_Ser1101delinsAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073812" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "A", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522267.1:c.391A>T" ], "proteinEffect": { "hgvs": "XP_011520569.1:p.Lys131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089422" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "A", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522268.1:c.391A>T" ], "proteinEffect": { "hgvs": "XP_011520570.1:p.Lys131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089423" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.1:c.391A>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Lys131Ter", "hgvsWellDefined": "XP_011520571.1:p.Lys131_His680delinsAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089424" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_429476.2:n.397A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118385" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.1:n.397A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128014" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931961.1:n.397A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128015" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "A", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001365088.1:c.391A>T" ], "proteinEffect": { "hgvs": "NP_001352017.1:p.Lys131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.391A>T" }, "RefSeq": { "hgvs": "NM_001365088.1:c.391A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Lys131Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Lys131Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1638, "referenceAllele": "A", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.4:c.391A>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Lys131Ter", "hgvsWellDefined": "XP_006720856.1:p.Lys131_Ser1101delinsAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540170" }, { "coordinates": [ { "allele": "T", "end": 1642, "referenceAllele": "A", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.3:c.391A>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Lys131Ter", "hgvsWellDefined": "XP_011520571.1:p.Lys131_His680delinsAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546547" }, { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "A", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.3:n.1641A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610074" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "A", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.2:c.214A>T" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Lys72Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676038" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "A", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.2:c.214A>T" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Lys72Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676039" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "A", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.2:c.364A>T" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Lys122Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676040" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "A", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.2:c.346A>T" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Lys116Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676041" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "A", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.2:c.391A>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Lys131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729120" } ], "type": "nucleotide" }