Table 3.

Homologous mutations for SORL1 R953C in LDLR and LRP

	Disease	SNP	VarSome	Inheritance pattern	References
p.R595W_LDLR	FH	rs373371572	Pathogenic	A.D.	Descamps et al., 2001
					Chiou et al., 2010
p.R494Q_LRP5	OPPG	rs121908664	Pathogenic	A.R.	Gong et al., 2001
p.R494W_LRP5	FEVR	N.A.	Pathogenic	A.R.	Ai et al., 2005
					Abdel-Hamid et al., 2022
p.R752G_LRP5	FEVR	rs121908674	Pathogenic	A.R.	Jiao et al., 2004
p.R752W_LRP5	OPPG/FEVR	N.A.	Pathogenic	A.R.	Alonso et al., 2015
					Hull et al., 2019
p.R1188W_LRP5	PCLD	rs141178995	Pathogenic	A.D.	Cnossen et al., 2014
p.R632H_LRP4	SOST2	N.A.	Likely Pathogenic	A.R.	Huybrechts et a., 2021

N.A. = Not applicable

A.D. =Autosomal Dominant

A.R. =Autosomal Recessive