Table 2.

List of missense variants of CHD7 predicted to be functionally significant by bioinformatics analysis

Variant no.	Nucleotide change	Amino acid change	Allele frequency in East Asian (gnomAD)	SIFT		PolyPhen‐2.0		Mutationtaster
				Score	Prediction	Score	Prediction	Score	Prediction
1	c.G3464A	p.R1155H	0	0.04	Deleterious	0.930	Probably damaging	/	Disease causing
2	c.A2824G	p.T942A	0.0013	0.8	Tolerated	0.004	Benign	/	Disease causing
3	c.G4516A	p.G1506S	0.0006	0.12	Tolerated	0.926	Probably damaging	/	Disease causing