Table 3 of
Zou, Mol Vis 2021; 27:95-106. Table 3 of
Zou, Mol Vis 2021; 27:95-106.
Table 3. One deletion mutation and two deep intronic cryptic splicing mutation identified in this study.
| Patient IDa | Clinical diagnosis | zygosity | First allele b | Second allele c | Segregation available | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| cDNA variant | gnomAD (Allele frequency) | Protein variant | cDNA variant | gnomAD (Allele frequency) | Protein variant | SpliceAI Score | ||||
| MEP_305 | LCA | heterozygous | c.3793_3794insGAAA | 4.04E-06 | p.(Val1265GlyfsTer19) | c.2710+233G>A | 0 | intronic | 0.66 | NO |
| MEP_318 | LCA | heterozygous | c.934dupC | 0 | p.(Gln312ProfsTer9) | c.1468–263G>C | 0 | intronic | 0.39 | NO |
| RKK_665 | LCA | heterozygous | c.2627A>G | 0 | p.(Asp876Gly) | c.3340_c.3533del2890 | 0 | p.(Ala1113_Lys1177 delfs*(64)) | NO | |