About 129 different HHT-related mutations have been reported so far, 79 in ENG and 50 in ALK-1, including missense, nonsense, frameshift, splice-site.

• 目前发现与HHT有关的不同的突变有129个,其中有79个与ENG基因突变有关,50个与ALK-1基因突变有关。 ENG基因或ALK-1基因的突变有错义突变、无义突变、剪接点突变。