Table 3. Characteristics of the variants.
| Variant | gnomAD | SIFT | CADD | PROVEAN | DANN |
|---|---|---|---|---|---|
| c.1841A>T p.(Asp614Val) | Absent | Deleterious | 25.3 | Damaging | 0.9865 |
| c.2305C>G p.(Leu769Val) | Absent | Tolerated | 25.9 | Damaging | 0.9986 |
| c.3004G>T p.(Val1002Leu) | Absent | Tolerated | 24.8 | Damaging | 0.9969 |
| c.3005T>G p.(Val1002Gly) | Absent | Deleterious | 26.3 | Damaging | 0.9973 |
| c.3019G>A p.(Gly1007Ser) |
Absent | Deleterious | 27.8 | Damaging | 0.9986 |
| c.3376A>G p.(Asn1126Asp) | Absent | Tolerated | 28.4 | Damaging | 0.9977 |
| c.3397T>C p.(Ser1133Pro) | Absent | Deleterious | 27.2 | Damaging | 0.9987 |
Characteristics of the variants (database, predicted pathogenicity). Overview of the different variants and the identification protocol.