Table 3. Summary of mutations and their ethnicity.

Mutation	AA change	European	Chinese	Arabic	Korean	Japanese	Unknown
c.64C>G	p.(Leu22Val)	3	0	0	0	0	0
c.71T>C	p.(Leu24Pro)	0	0	0	0	0	1
c.130T>A*	p.(Trp44Arg)	1	0	0	0	0	0
c.134A>C	p.(Gln45Pro)	1	0	0	0	0	0
c.181G>A*	p.(Gly61Ser)	0	1	0	0	0	0
c.197T>G	p.(Met66Arg)	0	0	0	0	0	1
c.237G>A*	p.(Glu79Asp)	0	1	0	0	0	0
c.283G>A	p.(Gly95Arg)	1	0	0	0	0	0
c.327+1G>A*	p.(Glu72Glyfs*5)	0	0	0	0	1	0
c.328-1G>A*	p.G(lu109Tyrfs*30)	1	0	0	0	0	0
c.332T>C	p.(Ile111Thr)	8	0	0	0	0	0
c.367A>G*	p.(Met123Val)	3	1	0	0	0	0
c.400G>T*	p.(Gly134*)	1	0	0	0	0	0
c.677T>A	p.(Met226Lys)	0	0	0	0	0	1
c.694C>T	p.(Arg232*)	1	2	0	0	0	0
c.802-8_810del17insGC	p.(Val268_Glu329del)	0	10	0	4	7	1
c.810delT	p.(Glu271Asnfs*6)	0	4	0	0	0	0
c.838G>T	p.(Glu280*)	1	0	0	0	0	0
c.958C>T	p.(Arg320*)	0	1	0	0	0	0
c.992A>C*	p.(His331Pro)	0	6	0	2	0	2
c.1021T>C*	p.(Ser341Pro)	1	0	0	0	0	0
c.1027T>G	p.(Tyr343Asp)	0	1	0	0	0	0
c.1091-2A>G*	p.(Gly364_Val408del)	0	9	0	0	0	1
c.1168C>T	p.(Arg390Cys)	0	0	0	0	0	1
c.1169G>A	p.(Arg390His)	0	0	0	0	0	1
c.1178C>T	p.(Pro393Leu)	0	0	0	0	0	1
c.1187C>T	p.(Pro396Leu)	0	0	0	0	0	1
c.1198C>T	p.(Arg400Cys)	1	0	0	0	0	0
c.1199G>A	p.(Arg400His)	1	1	0	0	0	0
c.1219G>T	p.(Glu407*)	0	0	0	0	0	1
c.1225+1G>A	p.(Gly364_Val408del)	0	0	1	0	0	0
c.1328G>A	p.(Arg443Gln)	4	0	0	1	0	0
c.1355G>A	p.(Arg452His)	0	0	0	1	0	0
c.1372G>A	p.(Val458Met)	2	0	0	0	0	0
c.1393A>G	p.(Arg465Gly)	0	0	0	0	0	1
c.1442delT	p.(Ser482Argfs*4)	0	1	0	0	0	0
c.1573G>A*	p.(Arg508His)	1	0	0	0	0	0