Table 1.

COL11A1 Mutations in Fibrochondrogenesis Cases

Patient ID	Exon	Nucleotide Change	Amino Acid Change
R06-573C	30	c.2386G>C	p.Gly796Arg
	53	c.3943G>T	p.Gly1315X
R00-394	18	c.1786dupG	p.Ala596GlyfsX8
	42	c.3124G>A	p.Gly1042Arg

The nucleotide changes are shown with respect to COL11A1 mRNA sequence NM_001854.3, and the corresponding predicted amino acid change is numbered from the initiating methionine residue, where applicable. Exons are numbered sequentially 1–68, and exons 6 and 7 represent the alternatively spliced exons 6A and 6B, respectively.