TABLE 1.

Variants of ALG1 affecting splicing classified as disease-causing mutations in the Human Gene Mutation Database (HGMD) and the novel variant reported in this work.

Variants	Splicing site affected	Data confirming splicing	References
c.208 + 25G > T	Donor intron 1	Partial intron 1 retention	This work
c.209-1G > C	Acceptor intron 1	No	Ng et al., 2016
c.961 + 1G > C	Donor intron 9	No	Ng et al., 2016
c.1187 + 1G > A	Donor intron 11	No	Jones et al., 2013; Ng et al., 2016
c.1187 + 3A > G	Donor intron 11	Intron 11 retention	Ng et al., 2016; Bowling et al., 2017
c.1188-2A > G	Acceptor intron 11	No	Ng et al., 2016
c.1188T > A (p.Cys396Ter)	Acceptor intron 11	No	Dupré et al., 2010