Table 2. Exome sequencing identified thirteen gene variants in four affected individuals of an ADNFLE pedigree in the Southern Chinese Han population.
| Chromosome | Gene name | Mutation type | Substitution | Score from SIFT | Prediction from SIFT |
|---|---|---|---|---|---|
| Chr11 | CABP4 | Missense | G155D | 0 | DaMaging |
| Chr1 | FAM72D | Missense | G82V | 0.04 | DaMaging |
| Chr20 | FRG1B | Missense | V12A | 0.03 | DaMaging |
| Chr20 | FRG1B | Missense | D24N | 0.03 | DaMaging |
| Chr7 | IGF2BP3 | Missense | I503T | 0 | DaMaging |
| Chr2 | MKI67IP | Missense | V228M | 0.03 | DaMaging |
| Chr7 | MLL3 | Missense | C988F | 0 | DaMaging |
| Chr11 | MUC6 | Missense | T1911M | 0.04 | DaMaging |
| Chr4 | NHEDC1 | Missense | A473V | 0.01 | DaMaging |
| Chr4 | UGT2B11 | Missense | H481R | 0.02 | DaMaging |
| Chr19 | ZNF285 | Missense | P455Q | 0.03 | DaMaging |
| Chr12 | ZNF705A | Missense | R67W | 0.04 | DaMaging |
| Chr11 | ZNHIT2 | Missense | R384W | 0.02 | DaMaging |