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"ENSP00000506556.1:p.Arg67_Pro379delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780525" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000680990.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000506050.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000506050.1:p.Arg67_Leu126delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyHisGluGluArgArgIleAlaLysGlyAsnArgSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780604" }, { "coordinates": [ { "allele": "T", "end": 184, "endIntronDirection": "-", "endIntronOffset": 2815, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 2816 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681129.1:c.71-2816C>T" ], "proteinEffect": { "hgvs": "ENSP00000505329.1:n.71-2816C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780741" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681389.1:n.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780997" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681414.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000505797.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000505797.1:p.Arg67_Pro376delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781021" }, { "coordinates": [ { "allele": "T", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681441.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000504992.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000504992.1:p.Arg67_Gln177delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781048" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681539.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000505557.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000505557.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781145" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681551.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000504974.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000504974.1:p.Arg67_Pro378delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781157" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681636.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000506155.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000506155.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781242" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681742.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000506122.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000506122.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781345" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000681777.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000506511.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000506511.1:p.Arg67_Cys199delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781380" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000354200.4:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000346139.4:p.Arg67Ter", "hgvsWellDefined": "ENSP00000346139.4:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263043" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000461304.5:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000432280.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000432280.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS305843" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "ENST00000494633.1:n.337C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331514" }, { "@id": "http://reg.genome.network/allele/PA150643", "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "NM_144628.3:c.199C>T" ], "proteinEffect": { "hgvs": "NP_653229.1:p.Arg67Ter", "hgvsWellDefined": "NP_653229.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041152" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "NR_111901.1:n.347C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055102" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "XM_005260661.1:c.199C>T" ], "proteinEffect": { "hgvs": "XP_005260718.1:p.Arg67Ter", "hgvsWellDefined": "XP_005260718.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062870" }, { "coordinates": [ { "allele": "T", "end": 197, "endIntronDirection": "-", "endIntronOffset": 2815, "referenceAllele": "C", "start": 197, "startIntronDirection": "-", "startIntronOffset": 2816 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "XM_006723540.2:c.71-2816C>T" ], "proteinEffect": { "hgvs": "XP_006723603.1:n.71-2816C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075085" }, { "coordinates": [ { "allele": "T", "end": 183, "endIntronDirection": "-", "endIntronOffset": 2815, "referenceAllele": "C", "start": 183, "startIntronDirection": "-", "startIntronOffset": 2816 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "XM_006723540.3:c.71-2816C>T" ], "proteinEffect": { "hgvs": "XP_006723603.1:n.71-2816C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540773" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "-", "endIntronOffset": 2815, "referenceAllele": "C", "start": 175, "startIntronDirection": "-", "startIntronOffset": 2816 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "XM_017027645.1:c.71-2816C>T" ], "proteinEffect": { "hgvs": "XP_016883134.1:n.71-2816C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS577556" }, { "@id": "http://reg.genome.network/allele/PA150643", "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "NM_144628.4:c.199C>T" ], "proteinEffect": { "hgvs": "NP_653229.1:p.Arg67Ter", "hgvsWellDefined": "NP_653229.1:p.Arg67_Pro403delinsLysValTrpProLysLeuLeuAsnValAsnAlaAsnAspProProProIleSerGlyLysAsnLeuArgGlnMetSerLysAspTyrGlnGlnValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672045", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354200.5:c.199C>T" }, "RefSeq": { "hgvs": "NM_144628.4:c.199C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346139.4:p.Arg67Ter" }, "RefSeq": { "hgvs": "NP_653229.1:p.Arg67Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN016133", "geneNCBI_id": 128637, "geneSymbol": "TBC1D20", "hgvs": [ "NR_111901.2:n.327C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703166" } ], "type": "nucleotide" }