Table 2 In silico predictions of 4 novel non-synonymous variants
Gene | cDNA alteration | AA alteration | Effect | Mutation Taster | PolyPhen-2 | SIFT |
|---|---|---|---|---|---|---|
AKAP9 | c.10714C > G | p.P3572A | Missense | Polymorphism (0.99) | Benign 0.003 | Tolerate (0.86) |
FLNC | c.7778C > G | p.T2593S | Missense | Disease causing (0.99) | Benign0.055 | Tolerate (0.25) |
SYNE1 | c.25954C > T | p.R8652X | Nonsense | Disease causing (0.99 | Disease causing | Disease causing |
DSP | c.832delG | p.A278Pfs*39 | Frame-shift | Disease causing0.99 | Disease causing | Disease causing |