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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 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)

  1. NGS Next-generation sequencing