Table 6: Frequency of major EYS variants in 82 probands with EYS mutations.

Exon DNA variantProtein variantAllele Frequency

EYS ex26c.4957_4958insAp.S1653K fs*24426.8
EYS ex32c.6557G>Ap.G2186E74.3
EYS ex32c.6563T>Cp.I2188T84.9
EYS ex44c.8868C>Ap.Y2956*2213.4

Truncating and nonsense variants.