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Table 2 Summary of the variants analysis

From: Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

GENE mutationENG, n (%)ACVRL1, n (%)
Patients, n3677
Sequencing method, n (%)
 Sanger20 (55.5)45 (58.4)
 NGS12 (33.3)26 (33.8)
 Others4 (11.1)6 (7.8)
Variant type, n (%)
 Nonsense10 (27.7)39 (50.6)
 Frameshift13 (36.1)20 (25.9)
 Splice-site4 (11.1)3 (3.9)
 Missense9 (25)15 (19.4)
  1. NGS Next-generation sequencing