Table 2.
Mutation | Frequency n (%) |
---|---|
Missense/nonsense | 170 (72.0) |
Splicing | 22 (9.3) |
Regulatory | 11 (4.7) |
Small deletions | 20 (8.5) |
Small insertions | 10 (4.2) |
Small indels | 1 (0.4) |
Gross deletions | 2 (0.8) |
Gross insertions | 0 |
Complex rearrangements | 0 |
Repeat variations | 0 |
Total | 236 |
According to the Human Gene Mutation Database at Institute of Medical Genetics in Cardiff (http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PROC).