Table 1.

Summary of deleterious mutations from whole exome sequencing

Gene	Mutation type	Transcript	Site	AA change	Pathogenicity prediction
TOP1MT	Frameshift	NM_052963	c.765delC	p.S255Rfs*9	Deleterious
LAMC2	Missense	NM_005562	c.T3142C	p.S1048P	Deleterious
RPS6KC1	Missense	NM_001349663	c.A1483C	p.S495R	Deleterious
SLCO2A1	Missense	NM_005630	c.G1136A	p.G379E	Deleterious
LSG1	Missense	NM_018385	c.C1039T	p.R347W	Deleterious
FYB	Missense	NM_001465	c.A995G	p.K332R	Deleterious
BEND3	Missense	NM_001080450	c.C2041T	p.R681W	Deleterious
AUTS2	Missense	NM_015570	c.G2461A	p.A821T	Deleterious
ZCWPW1	Missense	NM_017984	c.C1064T	p.P355L	Deleterious
CEL	Missense	NM_001807	c.T2068G	p.S690A	Deleterious
NCAPD2	Missense	NM_014865	c.C2548T	p.R850W	Deleterious
IGDCC3	Missense	NM_004884	c.C2435A	p.S812X	Deleterious
CALML4	Missense	NM_033429	c.G442A	p.D148N	Deleterious
MT1E	Missense	NM_175617	c.G107A	p.C36Y	Deleterious
PODNL1	Missense	NM_024825	c.T1016G	p.L339R	Deleterious
GFY	Missense	NM_001195256	c.C67T	p.P23S	Deleterious
LYL1	Splice site	NM_005583	c.427+5G>A	unknown	Deleterious