Figure 4. Sequence chromatograms of SIL1. A: Unaffected individual 09 in family 60067 homozygous for the wild type allele. B: Unaffected individual 06 in family 60067 heterozygous and C; affected individual 10 homozygous for the c.1240 C>T transition, leading to a premature termination p.Q414X. D: unaffected individual 14 of family 60078 heterozygous and E: affected individual 15 homozygous for the c.274 C>T transition, leading to a premature substitution; p.R92W.