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"XP_005245567.1:p.Arg134_Thr438delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057249" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245511.3:c.145C>T" ], "proteinEffect": { "hgvs": "XP_005245568.1:p.Arg49Ter", "hgvsWellDefined": "XP_005245568.1:p.Arg51_Tyr342delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057250" }, { 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"XP_011508326.1:p.Arg136_Thr440delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077289" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510025.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011508327.1:p.Arg114Ter", "hgvsWellDefined": "XP_011508327.1:p.Arg116_Thr420delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077290" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510026.1:c.703C>T" ], "proteinEffect": { "hgvs": "XP_011508328.1:p.Arg235Ter", "hgvsWellDefined": "XP_011508328.1:p.Arg237_Pro419delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnIleProAlaAlaSerLeuHisPheProLeuLeuLysMetArgHisGlnLeuSerPheLeuLeuHisSerTyrHisIleProIleProPheSerSerLeuProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077291" }, { "@id": "http://reg.genome.network/allele/PA2827344258", "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_001330723.1:c.703C>T" ], "proteinEffect": { "hgvs": "NP_001317652.1:p.Arg235Ter", "hgvsWellDefined": "NP_001317652.1:p.Arg237_Thr541delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517049" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245510.3:c.394C>T" ], "proteinEffect": { "hgvs": "XP_005245567.1:p.Arg132Ter", "hgvsWellDefined": "XP_005245567.1:p.Arg134_Thr438delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532439" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_005245511.4:c.145C>T" ], "proteinEffect": { "hgvs": "XP_005245568.1:p.Arg49Ter", "hgvsWellDefined": "XP_005245568.1:p.Arg51_Tyr342delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532440" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510024.2:c.400C>T" ], "proteinEffect": { "hgvs": "XP_011508326.1:p.Arg134Ter", "hgvsWellDefined": "XP_011508326.1:p.Arg136_Thr440delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541542" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510025.2:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011508327.1:p.Arg114Ter", "hgvsWellDefined": "XP_011508327.1:p.Arg116_Thr420delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541543" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510026.2:c.703C>T" ], "proteinEffect": { "hgvs": "XP_011508328.1:p.Arg235Ter", "hgvsWellDefined": "XP_011508328.1:p.Arg237_Pro419delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnIleProAlaAlaSerLeuHisPheProLeuLeuLysMetArgHisGlnLeuSerPheLeuLeuHisSerTyrHisIleProIleProPheSerSerLeuProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541544" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_017002417.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_016857906.1:p.Arg114Ter", "hgvsWellDefined": "XP_016857906.1:p.Arg116_Tyr407delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558376" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450038.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_024305806.1:p.Arg49Ter", "hgvsWellDefined": "XP_024305806.1:p.Arg51_Thr355delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583580" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450039.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_024305807.1:p.Arg49Ter", "hgvsWellDefined": "XP_024305807.1:p.Arg51_Tyr342delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583581" }, { "@id": "http://reg.genome.network/allele/PA2827344258", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_001330723.2:c.703C>T" ], "proteinEffect": { "hgvs": "NP_001317652.1:p.Arg235Ter", "hgvsWellDefined": "NP_001317652.1:p.Arg237_Thr541delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000458013.7:c.703C>T" }, "RefSeq": { "hgvs": "NM_001330723.2:c.703C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400333.2:p.Arg235Ter" }, "RefSeq": { "hgvs": "NP_001317652.1:p.Arg235Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139766035", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_030918.6:c.703C>T" ], "proteinEffect": { "hgvs": "NP_112180.4:p.Arg235Ter", "hgvsWellDefined": "NP_112180.4:p.Arg237_Tyr528delinsGlyLeuGluGluTyrLeuGluLysValCysSerIleArgValIleGlyGluSerAspIleMetGlnGluPheLeuSerGluSerAspGluAsnTyrAsnGlyValSerAspValGluLeuArgValAlaLeuProAspGlyThrThrValThrValArgValLysLysAsnSerThrThrAspGlnValTyrGlnAlaIleAlaAlaLysValGlyMetAspSerThrThrValAsnTyrPheAlaLeuPheGluValIleSerHisSerPheValArgLysLeuAlaProAsnGluPheProHisLysLeuTyrIleGlnAsnTyrThrSerAlaValProGlyThrCysLeuThrIleArgLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698899" } ], "type": "nucleotide" }