Table 1. Mosaicism level quantification and breakpoint characterization in 18 subjects with XLAG syndrome.

ID	Gender	Inheritance	ddPCR on parental DNA	DLRS	mosaicism level by aCGH	mosaicism level by ddPCR	Breakpoint features	Potential mechanism
S1	M	Sporadic	both NA	0.11	0.538	0.585 ± 0.016	12 bp microhomology	FoSTeS/MMBIR, MMEJ
S11	M	Sporadic	mother negative, father NA	0.18	0.256	0.294 ± 0.014	2 bp microhomology	FoSTeS/MMBIR, MMEJ
S15	M	Sporadic	both NA	0.15	0.161	0.182 ± 0.022	1 bp microhomology	FoSTeS/MMBIR, MMEJ
F2A	M	Familial	both NA	0.27	0.691	NA	2 bp microhomology	FoSTeS/MMBIR, MMEJ
F1B	M	Familial	both NA	0.14	0.769	0.854 ± 0.052	4 bp insertion	FoSTeS/MMBIR, NHEJ
F1C	M	Familial	both NA	0.15	0.785	0.845 ± 0.059	4 bp insertion	FoSTeS/MMBIR, NHEJ
F1A	F	Familial	both NA	0.14	1.030	0.839 ± 0.074	4 bp insertion	FoSTeS/MMBIR, NHEJ
S2	F	Sporadic	Both Negative	0.24	1.377	1.312 ± 0.117	5 bp microhomology	FoSTeS/MMBIR, MMEJ
S4	F	Sporadic	Both Negative	0.12	1.066	0.957 ± 0.010	CGR with small insertions and microhomology at breakpoint junction	FoSTeS/MMBIR
S5	F	Sporadic	both NA	0.13	1.099	1.032 ± 0.026	5 bp insertion	FoSTeS/MMBIR, NHEJ
S6	F	Sporadic	Both Negative	0.13	0.999	0.944 ± 0.033	2 bp microhomology	FoSTeS/MMBIR, MMEJ
S7	F	Sporadic	both NA	0.14	1.041	0.944 ± 0.051	3 bp microhomology	FoSTeS/MMBIR, MMEJ
S8	F	Sporadic	both NA	0.14	0.911	0.968 ± 0.057	3 bp microhomology	FoSTeS/MMBIR, MMEJ
S9	F	Sporadic	both NA	0.24	0.963	1.017 ± 0.034	4 bp microhomology / 7 bp microhomeology	FoSTeS/MMBIR, MMEJ
S10	F	Sporadic	both NA	0.16	0.758	0.986 ± 0.048	4 bp microhomology	FoSTeS/MMBIR, MMEJ
S14	F	Sporadic	both NA	0.16	1.150	0.994 ± 0.007	3 bp microhomology with an 8 bp deletion nearby	FoSTeS/MMBIR, MMEJ
S13	F	Sporadic	Both Negative	0.11	0.806	0.974 ± 0.040	52 bp insertion	FoSTeS/MMBIR, MMEJ
S16	F	Sporadic	both NA	0.14	0.845	0.915 ± 0.033	291 bp insertion	FoSTeS/MMBIR, MMEJ