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NARS2 mutation information in this study.
| Gene | NARS2 | NARS2 |
|---|---|---|
| Variant | c.1253G>A (p.Arg418His) | c.1163C>T (p.Thr388Met) |
| Chromosome | chr11:78154716 | chr11:78176923 |
| ExAC | 0 | 0 |
| GnomAD | 0 | 0 |
| SIFT | Deleterious | Deleterious |
| Mutation Taster | Damaging | Damaging |
| PolyPhen | Probably damaging | Probably damaging |
| ACMG rating | Uncertain significance | Uncertain significance |
| Rating evidence | PM2+PM3_Supporting | PM2+PM3 |
