Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | 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 |