Table 2.

The most frequent compound heterozygous pathogenic combinations of CTSC mutations

Mutation on Allele 1	Mutation type	Mutation on Allele 2	Mutation type	References
c.96T>G p.Tyr32X	Nonsense	c.380A>C p.His127Pro	Missense	Lefèvre et al. (2001), Zhang et al. (2002), Pham et al. (2004a,b)
		c.815G>A p.Arg272His	Missense
c.322A>T p.Lys108X	Nonsense	c.436delT p.Ser146fsX30	Frameshift	Noack et al. 2008a,b
		c.504C>G p.Tyr168X	Nonsense
c.415G>A p.Gly139Arg	Missense	c.72C>A p.Cys24X	Nonsense	Hewitt et al. (2004a,b), Cagli et al. (2005), Yang et al. (2007)
		c.706G>T p.Asp236Tyr	Missense
		c.778T>C p.Ser260Pro	Missense
		c.1141delC p.Leu381fsX13	Frameshift
c.706G>T p.Asp236Tyr	Missense	c.415G>A p.Gly139Arg	Missense	Allende et al. (2001), Hewitt et al. (2004a,b)
		c.872G>A p.Cys291Tyr	Missense
c.815G>C p.Arg272Pro	Missense	c.96T>G p.Tyr32X	Nonsense	Toomes et al. (1999), Lefèvre et al. (2001), Zhang et al. (2002), de Haar et al. (2004), Pham et al. (2004a,b), Noack et al. (2008a,b)
		c.1141delC p.Leu381fsX13	Frameshift
c.1141delC p.Leu381fsX13	Frameshift	c.415G>A p.Gly139Arg	Missense	Lefèvre et al. 2001
		c.815G>C p.Arg272Pro	Missense