Table 1. Summary of CSDE1 LGD variants.

Isoform, NM_001242891. BCM, Baylor College of Medicine; WES, whole-exome sequencing; gDNA, genomic DNA; cDNA, complementary DNA; SSC, Simons Simplex Collection.

Patient ID	Cohort	Method	Function	Cohort size	Variant in gDNA (hg19,chr1)	Variant in cDNA	Protein change	Inheritance
PU2.p1	Providence	WES	Stopgain	–	g.115282407_115282407delG	c.243_243delC	p.S82Lfs*28	Paternal
BU2.p1	Bethesda	WES	Stopgain	–	g.115282401_115282402insT	c.248_249insA	p.Y83*	Paternal
NN1.p1	Nijmegen	WES	Frameshift	2,418	g.115282363delA	c.287_287delT	p.F96Sfs*14	De novo
SU2.p1	San Francisco	WES	Stopgain	–	g.115280664G>A	c.367C>T	p.R123*	De novo
SS1.p1	SSC	WES	Stopgain	2,508	g.115280664G>A	c.367C>T	p.R123*	De novo
AA.p1	Adelaide	Target	Stopgain	10,745	g.115280664G>A	c.367C>T	p.R123*	Maternal
TI.p1	Troina	Target	Frameshift	10,745	g.115275369_115275370TT	c.1043_1044delAA	p.K348Rfs*12	De novo
BU1.p1	Baltimore	WGS	Stopgain	29	g.115275305G>A	c.1108C>T	p.R370*	De novo
CC1.p1	ACGC	Target	Stopgain	4,045	g.115275239C>A	c.1174G>T	p.E392*	De novo
CC4.p1	Changsha	Target	Splicing	10,745	g.115273044C>T	c.1330-1G>A	–	Paternal
PU1.p1	BCM	WES	Frameshift	8,910	g.115273009_115273010insT	c.1363_1364insA	p.R455Kfs*3	Maternal
CC2.p1	ACGC	Target	Frameshift	4,045	g.115269672_115269673insC	c.1533_1534insG	V512Gfs*23	De novo
CC3.p1	ACGC	Target	Splicing	4,045	g.115269008C>T	c.1603-1G>A	–	De novo
TA.p1	TASC	Target	Stopgain	10,745	g.115268971G>A	c.1639C>T	p.Q547*	Paternal
NN2.p1	Nijmegen	WES	Frameshift	2,418	g.115267916_115267917insC	c.1816_1817insG	p.D606Gfs*6	Not maternal
SU1.p1	BCM	WES	Splicing	8,910	g.115267840T>C	c.1891+2A>G	–	Paternal
TU.p1	BCM	WES	Frameshift	8,910	g.115261250_115261250delC	c.2471_2471delG	p.G824Dfs*30	Not maternal
SS2.p1	Swedish	Target	Frameshift	10,745	g.115260816_115260819delTCTT	c.2506_2509delAAGA	p.K836Sfs*17	Maternal