Figure 6.

Illustration of the latest recommendations for human mutation nomenclature. This most recent nomenclature discards the IVS concept for intronic variations. Instead, the concept introduced earlier using two numbers is again recommended. Variations occurring in the 3’UTR are labeled with a preceding asterisk and numbering starts at the beginning of the UTR. Using these recommendations the two SNPs are described as c.–225C>A and c.26+2T>C