Table 1. BEST1 mutations identified in the patients.

Patient	Age at onset	Mutation	Protein Effect	SIFT	Polyphen-2	Reported or not
1	13	c.38G>A/c.763C>T	p.R13H/p.R255W	T/D	B/PrD	Reported/reported
2	29	c.763C>T/c.763C>T	p.R255W/p.R255W	D/D	PrD/PrD	Reported
3	21	c.389G>T/c.488T>G	p.R130L/p.M163R	D/D	PrD/PrD	Reported/reported
4	19	c.842T>C/c.247+2T>G	p.F281S/Splicing defect	D/ NA	PrD/ NA	Novel/novel
5	38	c.1070C>T/c.1550C>G	p.A357V/p.S517*	D/NA	B/NA	Novel/novel
6	25	c.764G>A/c.830C>T	p.R255Q/p.T277M	T/D	PrD/PrD	Novel/reported
7	35	c.1066C>T/ c.1066C>T	p.R356* /p.R356*	NA/ NA	NA/ NA	Reported
8	33	c.764G>A/c.763C>T	p.R255Q/p.R255W	D/D	PrD/PrD	Novel/reported

T, Tolerated; D, Damaging; PrD, Probably damaging; B, Benign; NA, No applicable for variants other than amino acid substitution.