Table 2.

Causative EXTL3 Mutations Detected by WES in the Five Families

Family	Chromosome	hg19 Position	EXTL3aVariant	Amino Acid Change	ExAC Browser Frequency	PhyloP Score	SIFT Score	PolyPhen-2 Score
A	8	g.28575113	c.1537C>T	p.Arg513Cys	NP	6.238	0	1
B	8	g.28575584	c.2008T>G	p.Tyr670Asp	NP	7.984	0	1
C and D	8	g.28574958	c.1382C>T	p.Pro461Leu	1.65 × 10-5	7.727	0	1
E	8	g.28575546	c.1970A>G	p.Asn657Ser	5.80 × 10-5	9.206	0	1

NP means not present in the database.

^aGenBank: NM_001440.3.