[CHD8]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| BL | 1 | high-confidence BL gene |
| DLBCL | 2 | relevance in DLBCL not firmly established |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 8.78 |
| BL | Thomas cohort | 8.50 |
| BL | Panea cohort | 16.80 |
| DLBCL | GAMBL genomes | 1.91 |
| DLBCL | Schmitz cohort | 3.60 |
| DLBCL | Reddy cohort | 2.90 |
| DLBCL | Chapuy cohort | 3.00 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 3.551 | 14.940 |
| DLBCL | No | No | 1.619 | 0.000 |
| FL | No | No | 1.344 | 12.679 |
[!NOTE] First described in BL in 2023 by Thomas N. First described in DLBCL in 2017 by Reddy A
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
