Table 3: SCN5A genetic variation in the general population.
Type of mutation | frequency in EVS (n>6500) | Frequency in ExAC (n>120,000) |
---|---|---|
Missense | 1.89% | 7.40% |
Splice | 0.02% | 0.01% |
Stopgain | - | 0.01% |
Frameshift | - | 0.01% |
In frame deletion | - | 0.02% |
Total | 1.91% | 7.45% |