Table 4 of Cevik, Mol Vis 2023; 29:217-233.

Table 4. Putative Loss of Function (pLoF) and intronic ABCA4 variants in the study.

ABCA4 pLOF and intronic variants Predicted effect Predicted effect on protein ClinVar Asses.
c.664delG New Acceptor site▪ p.A222Qfs*19 P
c.768G>T Splicing (Exon-intron boundary) ▪ p.V256=fs*12 P/LP
c.850_857delATTCAAGA Splicing (Broken WT donor site) ▪ p.I284Vfs*33 P
c.859-13T>C No impact on splicing▪ ? VUS
c.4234C>T Nonsense p.Q1412* P
c.4539+2028C>T No impact on splicing▪
345-nt pseudoexon insertion ?
p.R1514Lfs∗3656 CI
c.5018+2T>C Splicing (Broken WT donor site) ▪ p.T1675Vfs*30 P/LP
c.5714+5G>A Splicing (Broken WT donor site) ▪ Skipping of exon 4065 P/LP
c.6184_6187delGTCT Frameshift p.V2062Tfs*51 P

▪HSF-Pro: Human Splicing Finder, version 4 [46], P: Pathogenic, LP: Likely Pathogenic, VUS: Variants of Uncertain Significance, CI: Conflicting interpretation, NP: Not provided.

Cevik, Mol Vis 2023; 29:217-233. http://www.molvis.org/molvis/v29/217

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