Table 1. Mutations identified in the SMAD3 gene.

Famile	Exon	Nucleotide	Variation
BIC5301	Exon 6	c.733G>A	p.Gly245Arg
BIC9521	Exon 6	c.742T>C	p.Phe248Leu
BIC4191	Exon 6	c.860G>A	p.Arg287Gln
BIC886	Exon 6	c.668delC	p.Pro223Glnfs*18
BIC792	Exon 6	c.862_871+1dup11[AGACACATCGG]	p.Arg292Aspfs*53
BIC873	Exon 8	c.1102G>T	p.Arg368*
BIC029	Exon 9	c.1179_1180dupC	p.Cys394Leufs*4
BIC915	Exon 9	c.1267A>G	p.Ser423Gly