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Variant Information

Gene Interpretation
CBL chr11:119148891 chr11:119278181 c.1111T>A p.Y371N Pathogenic
CBL chr11:119148919 chr11:119278209 c.1139T>C p.L380P Pathogenic
CBL chr11:119148928 chr11:119278218 c.1148T>A p.I383K Pathogenic
CBL chr11:119148949 chr11:119278239 c.1169A>T p.D390V Pathogenic
CBL chr11:119149236 chr11:119278526 c.1244G>T p.G415V Pathogenic
CBL chr11:119149238 chr11:119278528 c.1247_1267delGTCCTTTCTGCCGATGTGAAA p.C416_E422del Pathogenic
CBL chr11:119149250 chr11:119278540 c.1258C>G p.R420G Pathogenic