Table 1 Summary of FLNB missense mutations.

Family ID	DNA mutation	Exon	Predicted amino	Domain	Reference
			acid change
319	482T→G	2	F161C	CHD2	15
LR9	479A→C	2	N160T	CHD2	This study
LR1	679G→A	4	E227K**	CHD2	This study; 15
CF16	4604G→A	27	S1535N	14	This study
LR7	4640C→A	27	A1547D	14	This study
318	4711_4713del AAT	28	1571delN	14	15
334	4756CG→A	28*	G1586R	14	15
LR6	4930G →T	29	G1644W	15	This study
LR11	5071G →T	29	G1691S**	15	This study; 15

Mutations and their predicted amino acid substitutions are shown in exon order. *Exons are numbered as depicted in the Ensembl genome browser (www.ensembl.org) and differ slightly from numbering reported by Krakow et al.¹⁵

**Previously reported.¹⁷