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. 2021 Feb 9;12:633003. doi: 10.3389/fgene.2021.633003

TABLE 1.

Pathogenic variants detected in three pregnant patients with Alport syndrome.

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.