Table 2 of Li, Mol Vis 2008; 14:733-738.
Family | Location | Mutation | Protein | Type of mutation | Zmax at DXS1047 |
A | exon 9 | c. 812G>T | p.C271F | missense | 8.55 |
B | exon 8 | 689–690delAG | p.S232Ffs2 | deletion | 3.61 |
C | 2.42 | ||||
D | exon 2 | c. 70G>T | p.G24W | missense | 1.57 |
E | exon 9 | c. 782G>A | p.R260Q | missense | |
F | exon 9 | c. 782G>A | p.R260Q | missense | |
G | exon 10 | c. 910C>T | p.R303X | nonsense |