TABLE 1.
Patient | Pathogenic gene | Transcript ID | DNA variant | Amino acid changes | Classification of variants# |
No. 1 | COL4A5 | NM_000495.4 | c.1834G > A | p.(Gly612Arg) | Likely pathogenic |
No. 2 | COL4A5 | NM_000495.4 | c.888_889del | p.(Gly298*) | Pathogenic |
No. 3 | COL4A5 | NM_000495.4 | c.1933C > T | p.(Gln645*) | Pathogenic |
#The interpretation and classification of variants was based on ACMG guideline (Richards et al., 2015). *Termination of protein translation.