Table 1.

Table of All Mutations to Date, Including the Effect, Location, Origin of the Patients, and References

Location	Mutation	Origin	References
Exon 1	c.90C>A; c.90C>A; c.96T>G; c.112delCCTG; c.116G>C; c.145C>T	Europe and North Africa, Morocco, Thailand, North America, China, Puerto Rico, South India	6, 19–25
Exon 2	c.199–222del; c.205C>T; c.267–268del	China, India, Brazil	7, 24, this case report
Exon 3	c.322A>T; c.380A>C; c.386T>A; c.415G>A; c.436delT; c.445–446insATGT; c.458C>T	Germany, France, Turkey, North America, China, Bangladesh, Scotland, Egypt	7, 14, 18, 22, 23, 27, 28
Intron 3	IVS3-1G>A	Not specified	10
Exon 4	c.555G>A; c.566–572Del; c.587T>C; c.622–623insC; c.628C>T; c.629–630 delGA	Brazil, Germany, Russia, Turkey, Algeria, India	7, 10, 15, 16, 19, 27, 29
Exon 5	c.704G>A; c.706G>T; c.71 1del14; c.745G>T ; c.748C>T; c.755A>T; c.756 757ins130	Iran, Spain, Europe, North Africa, Turkey, North America, China, Eritrea, Morocco	7, 10, 19, 25, 28, 30–33
Exon 6	c.778T>C; c.815G>C; c.815G>A; c.854 C>T c.856C>T ; c.857A>G; c.872G>A; c.880T>C	China, Turkey, North America, France, Belgium, Morroco, India, Spain	7, 9–11, 19, 20, 22, 23, 27, 30, 31, 34
Exon 7	c.898G>A; c.899G>A; c.901G>A; c.902G>T; c.910T>A ; c.912C>A; c.935A>G; c.947T>G; c.956A>G; c.984del7bp; c.1015C>T; c. 1019A>G ; c.1028–1029delCT c. 1040A>G, c.1047delA; c.1056delT; c.1141delC; c. 1156G>C; c.1213C>A; c. 1214A>G; c.1213–1215delCAT; c.1268G>C; c.1269G>A; c.1286G>A; c. 1287G>C; c.1360A>G	Vietnam, North America, Iran, Japan, Germany, Panama, South India, Egypt, Germany, France, Martinique, Turkey, North America, Pakistan, Sri Lanka	6, 7, 9, 10, 11, 19, 24, 22, 27–29, 33, 35–37