CBL mutations detected in 27 JMML patients
| Location . | Nucleotide change . | Amino acid change . | No. of patients . |
|---|---|---|---|
| Intron 7 | 1096–1G>C* | Splice site | 1 |
| Exon 8 | 1111T>C* | 371 Tyr>His | 10 |
| 1111T>G* | 371 Tyr>Asp | 2 | |
| 1112A>G* | 371 Tyr>Cys | 1 | |
| 1139T>C* | 380 Leu>Pro | 1 | |
| 1141T>C* | 381 Cys>Arg | 1 | |
| 1150T>C* | 384 Cys>Arg | 4 | |
| 1186T>C* | 396 Cys>Arg | 1 | |
| 1190 del99bp | Deletion | 1 | |
| 1210 T>C* | 404 Cys>Arg | 1 | |
| 1222 T>C* | 408 Trp>Arg | 1 | |
| Intron 8 | 1227+4C>T | Splice site | 1 |
| 1228–2A>G* | Splice site | 1 | |
| Exon 9 | 1244G>T* | 415 Gly>Val | 1 |
| Location . | Nucleotide change . | Amino acid change . | No. of patients . |
|---|---|---|---|
| Intron 7 | 1096–1G>C* | Splice site | 1 |
| Exon 8 | 1111T>C* | 371 Tyr>His | 10 |
| 1111T>G* | 371 Tyr>Asp | 2 | |
| 1112A>G* | 371 Tyr>Cys | 1 | |
| 1139T>C* | 380 Leu>Pro | 1 | |
| 1141T>C* | 381 Cys>Arg | 1 | |
| 1150T>C* | 384 Cys>Arg | 4 | |
| 1186T>C* | 396 Cys>Arg | 1 | |
| 1190 del99bp | Deletion | 1 | |
| 1210 T>C* | 404 Cys>Arg | 1 | |
| 1222 T>C* | 408 Trp>Arg | 1 | |
| Intron 8 | 1227+4C>T | Splice site | 1 |
| 1228–2A>G* | Splice site | 1 | |
| Exon 9 | 1244G>T* | 415 Gly>Val | 1 |
Homozygous mutation.