TABLE 2.

Overview of the CDC20 mutations observed in the three families.

Family	Genomic position on Chr. 1 (bp)	cDNA change	Protein change	Mutation type	SIFTa	MutTasa	gnomADb	gnomAD_easb
1	43,826,442	c.887G > A	p. Arg296Gln	missense	D	D	3.2 × 10–5	0
2	43,826,519	c.964C > T	p. Arg322*	stop gain	NA	D	1.4 × 10–5	0
	43,826,520	c.965G > A	p. Arg322Gln	missense	T	D	8.5 × 10–5	9.0 × 10–4
3	43,825,310	c.330 + 1G > A	p. Glu111Ile fs*36	splicing	NA	NA	8.0 × 10–6	5.4 × 10–5
	43,826,868	c.1155G > C	p. Trp385Cys	missense	D	D	4.0 × 10–6	0

^aMutation assessment by SIFT and MutationTaster (MutTas). T, tolerated; D, damaging or disease causing; NA, not available. ^bFrequency of the corresponding mutations in the total and East Asian(eas) population of the gnomAD browser.