Table 2 of Souzeau, Mol Vis 2018; 24:261-273.
Proband ID | Location | Domain | Nucleotide change | Amino acid change | References |
---|---|---|---|---|---|
1a | Exon 6 | PD | c.238_241dupACTC | p.(Pro81HisfsTer12) | Novel |
2 | Exon 5 | PD | c.114_121del8 | p.(Pro39HisfsTer14) | [1] |
4 | Exon 10 | PST | c.820C>T | p.(Gln274Ter) | Novel |
6 | Exon 5 | PD | c.86T>C | p.(Ile29Thr) | Novel |
8 | Exon 8 | LNK | c.538C>T | p.(Gln180Ter) | [2] |
9 | Exon 6 | PD | c.325G>T | p.(Gly109Ter) | [3] |
10 | Exon 10 | HD | c.781C>T | p.(Arg261Ter) | [1,3-5] |
11 | Exon 8 | LNK | c.607C>T | p.(Arg203Ter) | [2,4-7] |
12a | Exon 13 | PST | c.1268A>T | p.(Ter423LeuextTer15) | [1,3,5,8] |
15 | Exon 1 | - | c.3G>T | p.(Met1?) | Novel |
17 | Intron 12 | PST | c.1183+1G>A | - | [5] |