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}, "referenceSequence": "http://reg.genome.network/refseq/RS023045" }, { "coordinates": [ { "allele": "T", "end": 2380, "endIntronDirection": "+", "endIntronOffset": 1812, "referenceAllele": "C", "start": 2380, "startIntronDirection": "+", "startIntronOffset": 1811 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "NM_001286659.1:c.2033+1812C>T" ], "proteinEffect": { "hgvs": "NP_001273588.1:n.2033+1812C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS023046" }, { "coordinates": [ { "allele": "T", "end": 2434, "endIntronDirection": "+", "endIntronOffset": 1812, "referenceAllele": "C", "start": 2434, "startIntronDirection": "+", "startIntronOffset": 1811 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "NM_001286659.2:c.2033+1812C>T" ], "proteinEffect": { "hgvs": "NP_001273588.1:n.2033+1812C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS023047" }, { "@id": "http://reg.genome.network/allele/PA214737", "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "NM_014832.3:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_055647.2:p.Arg684Ter", "hgvsWellDefined": "NP_055647.2:p.Arg685_Pro1298delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033507" }, { "@id": "http://reg.genome.network/allele/PA214737", "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "NM_014832.4:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_055647.2:p.Arg684Ter", "hgvsWellDefined": "NP_055647.2:p.Arg685_Pro1298delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033508" }, { "coordinates": [ { "allele": "T", "end": 2854, "referenceAllele": "C", "start": 2853 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_005266603.1:c.1975C>T" ], "proteinEffect": { "hgvs": "XP_005266660.1:p.Arg659Ter", "hgvsWellDefined": "XP_005266660.1:p.Arg660_Pro1273delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065126" }, { "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_005266605.1:c.1507C>T" ], "proteinEffect": { "hgvs": "XP_005266662.1:p.Arg503Ter", "hgvsWellDefined": "XP_005266662.1:p.Arg504_Pro1117delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065127" }, { "coordinates": [ { "allele": "T", "end": 1591, "referenceAllele": "C", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_006719903.2:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_006719966.1:p.Arg526Ter", "hgvsWellDefined": "XP_006719966.1:p.Arg527_Pro1140delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073386" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_011535331.1:c.1939C>T" ], "proteinEffect": { "hgvs": "XP_011533633.1:p.Arg647Ter", "hgvsWellDefined": "XP_011533633.1:p.Arg648_Pro1261delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102339" }, { "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "C", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_005266603.2:c.1975C>T" ], "proteinEffect": { "hgvs": "XP_005266660.1:p.Arg659Ter", "hgvsWellDefined": "XP_005266660.1:p.Arg660_Pro1273delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536264" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_005266605.3:c.1507C>T" ], "proteinEffect": { "hgvs": "XP_005266662.1:p.Arg503Ter", "hgvsWellDefined": "XP_005266662.1:p.Arg504_Pro1117delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536265" }, { "coordinates": [ { "allele": "T", "end": 2139, "referenceAllele": "C", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_006719903.3:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_006719966.1:p.Arg526Ter", "hgvsWellDefined": "XP_006719966.1:p.Arg527_Pro1140delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539978" }, { "coordinates": [ { "allele": "T", "end": 3316, "referenceAllele": "C", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_011535331.2:c.1939C>T" ], "proteinEffect": { "hgvs": "XP_011533633.1:p.Arg647Ter", "hgvsWellDefined": "XP_011533633.1:p.Arg648_Pro1261delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551993" }, { "coordinates": [ { "allele": "T", "end": 1637, "endIntronDirection": "+", "endIntronOffset": 1812, "referenceAllele": "C", "start": 1637, "startIntronDirection": "+", "startIntronOffset": 1811 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_017020882.2:c.1490+1812C>T" ], "proteinEffect": { "hgvs": "XP_016876371.1:n.1490+1812C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572242" }, { "coordinates": [ { "allele": "T", "end": 1526, "endIntronDirection": "+", "endIntronOffset": 1812, "referenceAllele": "C", "start": 1526, "startIntronDirection": "+", "startIntronOffset": 1811 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "XM_017020883.2:c.1379+1812C>T" ], "proteinEffect": { "hgvs": "XP_016876372.1:n.1379+1812C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572243" }, { "@id": "http://reg.genome.network/allele/PA214737", "coordinates": [ { "allele": "T", "end": 2452, "referenceAllele": "C", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN019165", "geneNCBI_id": 9882, "geneSymbol": "TBC1D4", "hgvs": [ "NM_014832.5:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_055647.2:p.Arg684Ter", "hgvsWellDefined": "NP_055647.2:p.Arg685_Pro1298delinsMetTyrLysGluSerAsnSerSerSerSerLeuProSerLeuHisThrSerPheSerAlaProSerPheThrAlaProSerPheLeuLysSerPheTyrGlnAsnSerGlyArgLeuSerProGlnTyrGluAsnGluIleArgGlnAspThrAlaSerGluSerSerAspGlyGluGlyArgLysArgThrSerSerThrCysSerAsnGluSerLeuSerValGlyGlyThrSerValThrProArgArgIleSerTrpArgGlnArgIlePheLeuArgValAlaSerProMetAsnLysSerProSerAlaMetGlnGlnGlnAspGlyLeuAspArgAsnGluLeuLeuProLeuSerProLeuSerProThrMetGluGluGluProLeuValValPheLeuSerGlyGluAspAspProGluLysIleGluGluArgLysLysSerLysGluLeuArgSerLeuTrpArgLysAlaIleHisGlnGlnIleLeuLeuLeuArgMetGluLysGluAsnGlnLysLeuGluAlaSerArgAspGluLeuGlnSerArgLysValLysLeuAspTyrGluGluValGlyAlaCysGlnLysGluValLeuIleThrTrpAspLysLysLeuLeuAsnCysArgAlaLysIleArgCysAspMetGluAspIleHisThrLeuLeuLysGluGlyValProLysSerArgArgGlyGluIleTrpGlnPheLeuAlaLeuGlnTyrArgLeuArgHisArgLeuProAsnLysGlnGlnProProAspIleSerTyrLysGluLeuLeuLysGlnLeuThrAlaGlnGlnHisAlaIleLeuValAspLeuGlyArgThrPheProThrHisProTyrPheSerValGlnLeuGlyProGlyGlnLeuSerLeuPheAsnLeuLeuLysAlaTyrSerLeuLeuAspLysGluValGlyTyrCysGlnGlyIleSerPheValAlaGlyValLeuLeuLeuHisMetSerGluGluGlnAlaPheGluMetLeuLysPheLeuMetTyrAspLeuGlyPheArgLysGlnTyrArgProAspMetMetSerLeuGlnIleGlnMetTyrGlnLeuSerArgLeuLeuHisAspTyrHisArgAspLeuTyrAsnHisLeuGluGluAsnGluIleSerProSerLeuTyrAlaAlaProTrpPheLeuThrLeuPheAlaSerGlnPheSerLeuGlyPheValAlaArgValPheAspIleIlePheLeuGlnGlyThrGluValIlePheLysValAlaLeuSerLeuLeuSerSerGlnGluThrLeuIleMetGluCysGluSerPheGluAsnIleValGluPheLeuLysAsnThrLeuProAspMetAsnThrSerGluMetGluLysIleIleThrGlnValPheGluMetAspIleSerLysGlnLeuHisAlaTyrGluValGluTyrHisValLeuGlnAspGluLeuGlnGluSerSerTyrSerCysGluAspSerGluThrLeuGluLysLeuGluArgAlaAsnSerGlnLeuLysArgGlnAsnMetAspLeuLeuGluLysLeuGlnValAlaHisThrLysIleGlnAlaLeuGluSerAsnLeuGluAsnLeuLeuThrArgGluThrLysMetLysSerLeuIleArgThrLeuGluGlnGluLysMetAlaTyrGlnLysThrValGluGlnLeuArgLysLeuLeuProAlaAspAlaLeuValAsnCysAspLeuLeuLeuArgAspLeuAsnCysAsnProAsnAsnLysAlaLysIleGlyAsnLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697363", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377636.8:c.2050C>T" }, "RefSeq": { "hgvs": "NM_014832.5:c.2050C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366863.3:p.Arg684Ter" }, "RefSeq": { "hgvs": "NP_055647.2:p.Arg684Ter" } } } } ], "type": "nucleotide" }