Specific patient-derived mutations introduced into the HNRNPH1 minigene
| Minigene mutant . | Mutation introduced . | Corresponding patient mutation . | |
|---|---|---|---|
| ΔA | G>T | chr5:179619414 C>A | Intronic |
| ΔB | G>T | chr5:179619406 C>A | G133G |
| ΔC | G>A | chr5:179619359 C>T | G149E |
| Minigene mutant . | Mutation introduced . | Corresponding patient mutation . | |
|---|---|---|---|
| ΔA | G>T | chr5:179619414 C>A | Intronic |
| ΔB | G>T | chr5:179619406 C>A | G133G |
| ΔC | G>A | chr5:179619359 C>T | G149E |
Minigene mutations corresponding to patient-identified HNRNPH1 mutations were introduced.