Table 3.

Description of Observed Mutations

Family	Mutation		Protein Prediction
BCS-001	deletion of exons 9–14	in-frame deletion	internally deleted protein
901	c.93+1G>A	splice site	splice error
902	c.320A>G	missense	p.Tyr107Cys
K921	c.711_714delTGTT	frameshift	p.Val238AlafsX35
K923	c.974delG	frameshift	p.Cys325LeufsX2
914	c.1517_1527del TTCATATCCGG	frameshift	p.Val506GlufsX5
BCS-002	c.1768C>T	nonsense	p.Arg590X