Table 3.
Hemophilia B Leyden mutations
| HGVS nucleotide no. | Legacy nucleotide no. | FIX:C (%)* | No. of patients |
|---|---|---|---|
| c.‐50T>G | −21 | 0–10 | 3 |
| c.‐49T>A | −20 | 0–60 | 3 |
| c.‐48G>C | −19 | 3 | 2 |
| c.‐35G>A | −6 | 0–25, 13–70 | 31 |
| c.‐35G>C | −6 | 1–30 | 5 |
| c.‐34A>T | −5 | 3 | 3 |
| c.‐24T>A | 6 | 0–8, 0–37 | 4 |
| c.‐22T>C | 8 | 0–60 | 4 |
| c.‐22delT | 8 | 5 | 1 |
| c.‐21C>G | 9 | NA | 1 |
| c.‐18A>G | 12 | 2.5–28, 0–60 | 11 |
| c.‐18delA | 12 | 0–60 | 1 |
FIX:C, FIX activity; HGVS, Human Genome Variation Society; NA, not available. Mutation data from the F9 mutation database 6. *Initial and most recent FIX:C level.