Figure 2.
PVS1 decision tree for SNVs/indels. Application of different levels of strength for PVS1 depending on the prediction of nonsense-mediated decay (NMD), the location within a known critical protein domain, and the expression of alternative isoforms. The splicing effects table is given in supplemental Data.

PVS1 decision tree for SNVs/indels. Application of different levels of strength for PVS1 depending on the prediction of nonsense-mediated decay (NMD), the location within a known critical protein domain, and the expression of alternative isoforms. The splicing effects table is given in supplemental Data.

Close Modal

or Create an Account

Close Modal
Close Modal