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Table 2 Type of variant according to the disease-causing gene

From: Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

  Type of variant
Missense In-frame indels Splice-site Non sense Frameshift Large deletion or duplication Total
ENG* (HHT1) 25 (24.0%) 4 (3.8%) 16 (15.3%) 20 (19.2%) 33 (30.8%) 6 (5.6%) 104
ACVRL1 (HHT2) 112 (45.3%) 4 (1.6%) 19 (7.7%) 25 (10.1%) 85 (34.4%) 2 (0.8%) 247
  1. * 3 ENG variants which affected the initiation codon were excluded because their effect was not demonstrated