From: Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
GENE mutation | ENG, n (%) | ACVRL1, n (%) |
---|---|---|
Patients, n | 36 | 77 |
Sequencing method, n (%) | ||
Sanger | 20 (55.5) | 45 (58.4) |
NGS | 12 (33.3) | 26 (33.8) |
Others | 4 (11.1) | 6 (7.8) |
Variant type, n (%) | ||
Nonsense | 10 (27.7) | 39 (50.6) |
Frameshift | 13 (36.1) | 20 (25.9) |
Splice-site | 4 (11.1) | 3 (3.9) |
Missense | 9 (25) | 15 (19.4) |