All mutations | Distinct mutations | Distinct mutat. | |||||
---|---|---|---|---|---|---|---|
RBGMdb | % | RBGMdb | % | HGMD | % | χ2 test | |
Nonsense | 395 | 42.4 | 93 | 18.6 | 5840 | 12.6 | P < 0.0001 |
Missense | 81 | 8.7 | 50 | 10.0 | 22940 | 49.6 | P < 0.0001 |
Splicing | 194 | 20.8 | 111 | 22.2 | 4771 | 10.3 | P < 0.0001 |
Regulatory | 7 | 0.7 | 5 | 1.0 | 626 | 1.4 | P = 0.6267 |
Small ins/del | 255 | 27.3 | 241 | 48.2 | 12076 | 26.1 | P < 0.0001 |
Total | 932 | 500 | 46253 |