Table 2.

Breakpoint Junction Features in Four Subjects

Subjects	jct1			jct2
	Microhomology	Ins/Dela	Point Mutationa	Microhomology	Ins/Dela	Point Mutationa
BAB3922	AAAA	0	0	A	Ins CC + Del C, Del T, Del G, Del CA	A>T
BAB3923	NA	NA	NA	CA	Ins CATCTGGGTGCA + Ins T	0
BAB3924	TTT	0	0	AGGCTG	0	0
DECIPHER_257814	GGTGGCAGGC	0	0	CT	Ins C	0

Abbreviations are as follows: jct, breakpoint junction; Ins, insertion; Del, deletion; NA, not available.

^aFlanking 50 bp sequence analyzed for de novo mutations.