Gene | CDS mutation | AA mutation | Predict SNP | MAPP | PhD-SNP | PolyPhen-1 | PolyPhen-2 | SIFT | SNAP | PANTHER | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | Prediction | Accuracy | |||
K14 | c.372C > A | p.D124E | DEL | 0.55 | DEL | 0.59 | DEL | 0.68 | NEU | 0.67 | DEL | 0.59 | DEL | 0.53 | NEU | 0.67 | DEL | 0.69 |
c.414G > C | p.E138D | NEU | 0.65 | NEU | 0.64 | DEL | 0.59 | NEU | 0.67 | NEU | 0.72 | DEL | 0.43 | NEU | 0.71 | DEL | 0.66 | |
c.467C > T | p.P156L | NEU | 0.60 | DEL | 0.48 | NEU | 0.66 | NEU | 0.67 | DEL | 0.40 | DEL | 0.53 | NEU | 0.58 | DEL | 0.67 | |
c.479A > T | p.K160I | DEL | 0.55 | DEL | 0.41 | NEU | 0.66 | DEL | 0.74 | NEU | 0.61 | DEL | 0.45 | DEL | 0.62 | DEL | 0.57 | |
c.659G > T | p.G220V | DEL | 0.51 | NEU | 0.73 | NEU | 0.45 | DEL | 0.74 | DEL | 0.65 | DEL | 0.79 | NEU | 0.55 | DEL | 0.74 | |
c.896G > C | p.R299P | DEL | 0.87 | DEL | 0.75 | DEL | 0.88 | DEL | 0.59 | DEL | 0.50 | DEL | 0.53 | DEL | 0.72 | DEL | 0.74 | |
c.944G > C | p.R315P | DEL | 0.76 | DEL | 0.62 | DEL | 0.82 | DEL | 0.59 | DEL | 0.50 | DEL | 0.79 | NEU | 0.50 | DEL | 0.70 | |
c.1237G > A | p.A413T | NEU | 0.65 | DEL | 0.62 | NEU | 0.51 | NEU | 0.67 | DEL | 0.40 | NEU | 0.67 | NEU | 0.71 | NEU | 0.47 | |
c.1246C > T | p.R416C | DEL | 0.61 | DEL | 0.57 | DEL | 0.88 | DEL | 0.59 | DEL | 0.50 | NEU | 0.71 | NEU | 0.55 | DEL | 0.78 | |
K10 | c.414T > A | p.D138E | NEU | 0.83 | NEU | 0.77 | NEU | 0.66 | 0 | 0 | 0 | 0 | NEU | 0.81 | NEU | 0.83 | NEU | 0.67 |
c.428C > T | p.S143F | NEU | 0.60 | NEU | 0.75 | DEL | 0.61 | 0 | 0 | 0 | 0 | DEL | 0.53 | NEU | 0.55 | DEL | 0.74 | |
c.502G > C | p.E168Q | DEL | 0.76 | DEL | 0.59 | DEL | 0.86 | DEL | 0.59 | DEL | 0.63 | DEL | 0.53 | NEU | 0.50 | DEL | 0.74 | |
c.679G > T | p.A227S | DEL | 0.52 | DEL | 0.41 | DEL | 0.77 | NEU | 0.67 | DEL | 0.50 | DEL | 0.46 | NEU | 0.71 | DEL | 0.57 | |
c.715G > C | p.E239Q | DEL | 0.76 | DEL | 0.48 | DEL | 0.68 | DEL | 0.59 | DEL | 0.63 | DEL | 0.79 | NEU | 0.55 | DEL | 0.74 | |
c.730C > G | p.L244V | DEL | 0.55 | DEL | 0.59 | DEL | 0.68 | NEU | 0.67 | DEL | 0.50 | DEL | 0.53 | NEU | 0.71 | DEL | 0.66 | |
c.770G > T | p.R257M | DEL | 0.76 | DEL | 0.51 | DEL | 0.73 | DEL | 0.74 | DEL | 0.54 | DEL | 0.79 | NEU | 0.58 | DEL | 0.74 |