Table 1.

Novel FZD4 Mutations Found in This Study

No	Nucleotide Change	Protein Change	1000G	ExAC	PolyPhen-2	PhyloP100	CADD	REVEL	Heredity	Cosegregation	ACMG
1	c.272C>T	p.S91F	0	0	0.982	1.506	29.8	0.698	Father	Yes	PS3
2	c.308T>A	p.V103E	0	0	0.999	4.471	28.7	0.667	Mother	Yes	PS3
3	c.433T>A	p.C145S	0	0	1.000	9.231	28.7	0.955	Father	Yes	PS3
4	c.478G>A	p.E160K	0	0	0.701	7.816	25.7	0.575	Father	Yes	PS3
5	c.1130G>T	p.C377F	0	0	1.000	7.767	29.8	0.925	Mother	Yes	PS3

In silico analyses used: PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/; provided in the public domain by Harvard University, Cambridge, MA, USA), PHRED- like Scaled CADD Score (https://cadd.gs.washington.edu/snv) and REVEL (https://sites.google.com/site/revelgenomics/). Refer to this literature for ACMG variant classification.⁴⁶