Table 3.

Mutations of patients with Shwachman-Diamond syndrome

Mutations		N	%
258+2T>C	183-184TA>CT	61	57.5
258+2T>C	183-184TA>CT+258+2T>C	16	15.1
258+2T>C	258+2T>C	9	8.5
258+2T>C	c.258+533_459+403del	4	3.8
258+2T>C	101A>T	1	0.9
258+2T>C	107delT	1	0.9
258+2T>C	187G>T	1	0.9
258+2T>C	212C>T	1	0.9
258+2T>C	289-292del	1	0.9
258+2T>C	300delAC	1	0.9
258+2T>C	307-308delCA	1	0.9
258+2T>C	352A>G	1	0.9
258+2T>C	356G>A	1	0.9
258+2T>C	624+1G>C	1	0.9
258+2T>C	92-93GC>AG	1	0.9
258+2T>C	G63C	1	0.9
258+2T>C	IVS1-71del83bp	1	0.9
258+2T>C	R218X	1	0.9
258+2T>C	Y32C	1	0.9
523C>T	523C>T	1	0.9