Exon   Nucleotide change Type of mutation Amminoacid change State 5 c.505G>A Missense p.E169K Heterozygous 8 c.1332C>G Nonsense p.Y444X Heterozygous 8 c.1631C>G Missense p.S544C Heterozygous

Table 1A: Missense and Nonsense Mutations in Proband’s WFS1.