Table 1.

Summary of studies reporting CTSC gene mutations

Location	Mutation	Ethnicity	References
5′UTR	c.-55C>A	Slovenian	Kosem et al. (2012)
Exon 1	c.21delG, c.72C>A, c.90C>A, c.96T>G, c.113delCCTG, c.116G>C, c.145C>T	Chinese, French, Indian, Mexican, Moroccan, North African, North American, Puerto-Rican, Thai	Lefèvre et al. (2001), Nakano et al. (2001), Zhang et al. (2002), Allende et al. (2003), Selvaraju et al. (2003), Hewitt et al. (2004a,b), Pham et al. (2004a,b), Nitta et al. (2005), Yang et al. (2007), Kurban et al. (2010)
Exon 2	c.199del24, c.203T>G, c.205C>T, c.267delGG	Brazilian, Chinese, Indian, Mexican	Hart et al. (2000a,b,c), Selvaraju et al. (2003), Pallos et al. (2010), Romero-Quintana et al. (2013)
Exon 3	c.322A>T, c.380A>C, c.386T>A, c.415G>A, c.436delT, c.444insATGT, c.458C>T	Chinese, Egyptian, French, German, Indian, North American, Scotish, Turkish	Hart et al. (2000a,b,c), Lefèvre et al. (2001), Hewitt et al. (2004a,b), Cagli et al. (2005), Yang et al. (2007), Noack et al. (2008a,b), Kobayashi et al. (2013)
Intron 3	c.485-1G>A	Egyptian, Jordanian	Toomes et al. (1999)
Exon 4	c.555G>A, c.566delCATACAT, c.587T>C, c.622insC, c.628C>T, c.629delGA	Algerian, Brazilian, German, Hungarian, Indian, Iranian, Lebanese, Moroccan, Russian, Turkish,	Hart et al. (2000a,b,c, 2002), Cury et al. (2002), Noack et al. (2004, 2008a,b), Cury et al. (2005), Wani et al. (2006), Farkas et al. (2013)
Exon 5	c.704G>A, c.706G>T, c.711del14, c.739A>C, c.745G>T, c.748C>T, c.755A>T, c.756ins130	Algerian, Chinese, Egyptian, Eritrean, Indian, Iranian, North American, Pakistanian, Spanish, Turkish	Toomes et al. (1999), Hart et al. (2000a,b,c), Allende et al. (2001), Lefèvre et al. (2001), Hewitt et al. (2004a,b), Jouary et al. (2008), Wen et al. (2012)
Exon 6	c.778T>C, c.815G>A, c.815G>C, c.851G>A, c.854C>T, c.856C>T, c.857A>G, c.872G>A, c.880T>C	Belgian, Chinese, French, Holland, Indian, Lebanese, Moroccan, North American, Russian, Saudi, Spanish, Sri Lankan, Turkish	Hart et al. (1999, 2000a,b,c), Toomes et al. (1999), Allende et al. (2001, 2003), Lefèvre et al. (2001), Zhang et al. (2002), de Haar et al. (2004), Hewitt et al. (2004a,b), Pham et al. (2004a,b), Yang et al. (2007), Noack et al. (2008a,b)
Exon 7	c.890G>T, c.898G>A, c.899G>A, c.901G>A, c.901G>T, c.902G>T, c.910T>A, c.912C>A, c.923G>A, c.935A>G, c.947T>G, c.956A>G, c.984delTTCTCCA, c.1015C>T, c.1019A>G, c.1028delCT, c.1040A>G, c.1047delA, c.1056delT, c.1131T>G, c.1141delC, c.1156G>C	Egyptian, French, German, Indian, Indian–Pakistanian, Iranian, Japanese, Jordanian, Martinique, North American, Panamanian, Saudi, Sri Lankan, Turkish, Vietnamese	Hart et al. (1999, 2000a,b,c), Toomes et al. (1999), Lefèvre et al. (2001), Nakano et al. (2001), Zhang et al. (2001), Selvaraju et al. (2003), de Haar et al. (2004, 2005), Hewitt et al. (2004a,b), Noack et al. (2004, 2008a,b), Wani et al. (2006), Jouary et al. (2008), Castori et al. (2009), Wen et al. (2012)