Table 2.

Predicted splice effect of variants identified in one allele patients (8)

Canonical human splice sequence	Intron													Acceptor		Donor		Intron
	−13	−12	−11	−10	−9	−8	−7	−6	−5	−4	−3	−2	−1	1	2	2	1	+1	+2	+3	+4	+5
	T	T	T	T	T	T	T	T	T	T	C	A	G	G	T	A	G	G	T	A	A	G
	50.5%	52.2%	55.4%	52.4%	49.3%	46.4%	46.0%	50.9%	55.5%	28.1%	65.0%	100.0%	100.0%	49.0%	36.9%	63.9%	80.6%	100.0%	100.0%	60.5%	69.9%	78.3%
V1 chr1:94,483, 997–94,484,011	C	T	G	T	C	T	A	C	A	C	G 0.2% A 5.6%	A	G	G	A
V2 chr1:94,483, 921–94,483,927																A	G	G	T	A	C 7.3% A 69.9%	C
V3 chr1:94,484, 077–94,484,083																T	A 9.8% G 80.6%	G	T	A	A	G
V4 chr1:94,493, 000–94,493,014	T	G	T	C	A	A	T	G	C	T	G	A	G	G	G 19.9% A 24.4%
V5 chr1:94,492, 959–94,492,973	C 28.0% T 50.5%	C	T	C	C	A	G	C	A	T	C	A	G	G	A
V6 chr1:94,466, 600–94,466,606																T	C	G	T	G 34.1% A 60.5%	A	G
V7 chr1:94,487, 397–94,487,403																G	G	G	T	A 60.5% G 34.1%	T	G