fig2

Figure 2. Mutation distribution of pathogenic KRIT1 variants, as reported so far in the HGMD^[14]: (A) distribution by type at DNA level; (B) distribution by DNA location; and (C) distribution by type at protein level (please note that in this case the term “missense” is used to define variants so classified in the original studies, without information regarding their impact on splicing process). The classification of variants has not been independently verified by the authors.