Table 3 New variants observed in patients 1, 2 and 4
Variants | Prediction (PolyPhen-2) | Prediction (SIFT) | Prediction (AGVGD) | Grantham score ([0–215]) |
|---|---|---|---|---|
Patient 1–2  CDH23  NM_022124.4:c.5527 G > T Chr10(NCBI 36):g.73214678 G > T p.Asp1843Tyr | Probably damaging | Not tolerated | Most likely interfere with function (Class C65) | 160 |
Patient 4 | ||||
 OTOF  NM_194248.2:c.3263 T > C Chr2(NCBI 36):g.26550910 T > C p.Leu1088Pro | Possibly damaging | Not tolerated | Less likely interfere with function (Class C0) | 98 |