TABLE 1.
Mutation | Amino acid change | Mutation Taster | Variation viewer | CO‐ESP | ExAC (total) | ExAC East Asian | 1000 G MAF |
---|---|---|---|---|---|---|---|
c.689_690del | p.F230fs | Disease causing (0.999) | no report | 0 | 0 | 0 | 0 |
Mutation | Amino acid change | Mutation Taster | Variation viewer | CO‐ESP | ExAC (total) | ExAC East Asian | 1000 G MAF |
---|---|---|---|---|---|---|---|
c.689_690del | p.F230fs | Disease causing (0.999) | no report | 0 | 0 | 0 | 0 |