Table 1.

Causal Variant MYO15A

Patient	Gene	Variant annotation	Inheritance mode of the variant	Chr	Ref	Var	Depth	P not ref	Q call	GERP Score	Classification
B156-272	MYO15A	NM_016239:exon6:c.3871C> T:p.Leu1291Phe	AR	17	C	T	60	100.00%	60	5.01	Nonsynonymous
		NM_016239:exon24:c.5835T> G:p.Tyr1945*	AR	17	T	G	81	100.00%	60		Nonsense