Table 1.

De novo mutations in SMARCC1 probands

Proband ID	Mutation	Class	Position (hg37)	cDNA change	AA change	Domain	MetaSVM rank score	MPC	gnomAD MAF
CHYD115-1a	De novo	Frameshift	3:47663805:CT:C	c.2672delA	p.(Lys891Argfs*6)	Glu-rich	–	–	0
CHYD168-1a	De novo	Missense	3:47718267:T:G	c.1577A>C	p.(His526Pro)	SWIRM	0.904	2.57	0
CHYD505-1a	De novo	Splice site	3:47719687:C:T	c.1571+1G>A	–	SWIRM	–	–	0
CHYDX1-1	De novo	Missense	3:47703958:T:C	c.2204A>G	p.(Asp675Gly)	Myb	0.13	1.22	0
CHYDX2-1	De novo	Splice site	3:44719687:C:T	c.1571+1G>A	–	SWIRM	–	–	0
CHYDX3-1	De novo	Frameshift	3:47823117:GA:G	c.170delT	p.(Val57Alafs*97)	Chromo	–	–	0

MAF = major allele frequency; MetaSVM = meta-analytic support vector machine; MPC = model predictive control.

^aProbands harbouring variants that have been previously reported.^15,16