Table 2. Summary of the variants.
Family | Location in APC (GRCh37/GRCh38) | Insertion length (bp) | Genomic variant | RNA alteration | Predicted protein alteration |
---|---|---|---|---|---|
FAP42 | intron 6 (5:112126337/5:112790640) | 127 | c.646-1806T>G | r.645_646ins646-1933_646-1807 | p.Arg216* |
FAP85 | intron 11 (5:112158419/5:112822720) | 83 | c.1408+731C>T | r.1408_1409ins1408+647_1408+729 | p.Gly471Serfs*55 |
AFAP163 | intron 11 (5:112158417/5:112822722) | 83 | c.1408+729A>G | r.1408_1409ins1408+647_1408+729 | p.Gly471Serfs*55 |
Note: An updated APC nomenclature based on 16 exons (NM_012583R138.4, ENST012583R10257430) was used for exon annotation.