Table 2. Gene test.

Gene	Nucleotide variant	Amino acid changes	Genotype	Clinical importance
BMPR2	c.1165 G>A	p.Glu389Lys	Heterozygous	Likely pathogenic

A, adenine; BMPR2, bone morphogenic protein receptor type 2; G, guanine; Glu, glutamic acid, Lys, lysine.