View de novo Variants from PubMed ID: 28250423
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.
| Gene ID | Gene Symbol | Chr | Position | Effect | Ref | Alt | Coding Change | Protein Change | Validation | iFish Probability | iFish Prediction |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG5728 | PTEN | 10 | 89692790 | c.274G>A | p.D92N | 0.4072 | neutral | ||||
| AutG5728 | PTEN | 10 | 89692908 | c.392C>T | p.T131I | 0.9811 | deleterious | ||||
| AutG5728 | PTEN | 10 | 89711882 | c.500C>A | p.T167N | ||||||
| AutG7249 | TSC2 | 16 | 2136269 | c.4738C>T | p.R1580W |