Table 2.

Canonical splice variants of STXBP1.

Variant	Patient ID	Disease categories	Disease onset/month	SpliceAI prediction
c.578+1G>A	STX_32139178_Patient_Infantile22	EOEE	3	Frame-shift
c.578+1dupG	STX_CHCO_01	EOEE	0.1	Frame-shift
c.578+2T>C	This study	OS (EOEE)	0	Frame-shift
c.169+2T>C	STX_31344879_Patient3	Atypical Rett Syndrome	2	Frame-shift
c.1249+2T>C	STX_HSJD_Patient_9	EOEE	0.13	Frame-shift
	STX_25631041_case_report	OS	0.49
c.1359+1G>A	STX_P_28	EOEE	72	Frame-shift
	STX_HSJD_Patient_7	EOEE	1
	STX_26865513_Patient_13	EOEE	4
c.1702+1G>A	STX_31344879_Patient5	Atypical Rett Syndrome	0.5	Frame-shift
	STX_EG1074P	WS	0.26
	STX_P_22	NDD	0.1
	STX_Syrbe_21	WS	3
c.795-2A>G	STX_25951140_Case_32	EOEE	0.5	In-frame 108bp deletion
	STX_26514728_Patient_4	EOEE	0.35
c.795-2A>T	STX_26865513_Patient_22	EOEE	2.5	In-frame 12bp deletion
c.1030-1G>A	STX_29896790_P2	EOEE	0	In-frame 81bp deletion