Table 1.

Mutations in EXT1 and EXT2

Exon	Nucleotide Change	Amino Acid Change
EXT1 (NM_000127.2)
1	c.138del	p.Leu46Phefs*90
	c.393C>A	p.Tyr131*
	c.679del	p.Arg227Aspfs*25
	c.864del	p.Asn288lysfs*71
2	c.1019G>A	p.Arg340His
	c.1031C>T	p.Ser344Phe
5	c.1384del	p.Leu462Trpfs*11
6	c.1431dup	p.Ser478Leufs*43
7/8	del exon7/exon8
EXT2 (NM_000249.3)
2	c.202dup
6	c.997T>C	p.Val68Glyfs*4
intron 6	c.1039‐2A>G	p.Cys333Arg
intron 7	c.1178+1G>A

EXT indicates exostosin.