Table 2. Characteristics of MYO7A mutations.
| cDNA Change | Protein Change | dbSNP rs ID | MAF in Exome Variant Server and Exac | SIFT | Polyphen 2 | Condel | Mutation Assessor |
Mutation Taster | DDIG-in |
|---|---|---|---|---|---|---|---|---|---|
| M3: c.3500T>A | p.Leu1167His | - | - | Deleterious | Probably damaging | Deleterious | High | Disease causing | - |
| M4: c.4487C>A | p.Thr1496Lys | rs373651847 | 0.0079 8.328e-06 |
Tolerated | Possibly damaging | Deleterious | Low | Disease causing | - |
| M5: c.5617C>T | p.Arg1873Trp | rs397516321 | - 8.817e-06 |
Deleterious | Probably damaging | Deleterious | Medium | Disease causing | - |
| M1: c.6025delG | p.Ala2009Profs*32 | - | - | - | - | - | - | Disease causing | Disease causing |
| M2: c.6229T>A | p.Trp2077Arg | - | - | Deleterious | Probably damaging | Deleterious | Medium | Disease causing | - |