Table 1 of Siemiatkowska, Mol Vis 2014; 20:753-759.


Table 1. Mutations in NMNAT1 detected in LCA patients.

Patient Variants Segregation
1    c.53A>G (p.N18S)/c.472G>C (p.D158H) n.d.
2    c.769G>A (p.E257K)/c.253T>C (p.W85R) n.d.
3.1    c.769G>A (p.E257K)/c.617A>G (p.H206A) yes
3.2    c.769G>A (p.E257K)/c.617A>G (p.H206A)
4    c.769G>A (p.E257K)/c.595G>T (p.E199*) yes
5    c.769G>A (p.E257K)/c.731T>C (p.V244A) yes
6    c.769G>A (p.E257K)/c.619C>T (p.R207W) yes