Table 2.

Prediction of the function of LDLR gene variants in the proband

Numbers	DNA change	Protein	P-domain	Clinical classification	Affects function
1	c.1413A>G	p. R471R	LDLR class B2	Benign	Does not affect function
2	c.1617C>T	p. P539P	LDLR class B4	Benign	Does not affect function
3	c.2054C>T	p. P685L	EGF-like 3	Likely pathogenic	Probably affects function
4	c.2232A>G	p. R744R	-	-	Unreported