Figure 6.
In silico splicing analysis of the MSH2 variant using Pangolin. The deep-learning framework Pangolin was utilized to predict the impact of the identified germline variant (NM_000251.3:c.942 + 3A>T) on RNA splicing. The upper tracks display the RefSeq transcript isoforms for MSH2. The “PangolinΔ” track visualizes the predicted change in splice site usage probability (Delta score).
