Table 2. Information concerning the two candidate causal mutations identified after whole-genome sequencing.
Position UMD3.1 | Ref. allele | Alt. allele | Gene | Consequence | Aa subst. | Prediction (SIFT) |
---|---|---|---|---|---|---|
7:111552659 | A | G | MAN2A1 | Nonsynonymous coding | K/R | Tolerated |
7:112337413 | C | T | SLC25A46 | Nonsynonymous coding | R/C | Damaging |