View de novo Variants from PubMed ID: 24650168
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG6326 | SCN2A | 2 | 166164448 | splice-site | G | A | c.476?+?1G?>?A | Sanger sequencing | |||
| AutG7088 | TLE1 | 9 | 84199163 | missense | C | T | c.2263G?>?A | p.Val755Ile | Sanger sequencing | 0.0223 | neutral |
| AutG699 | BUB1 | 2 | 111398623 | synonymous | T | C | c.2943A?>?G | Sanger sequencing | |||
| AutG79741 | C10orf68 | 10 | 32856654 | synonymous | T | A | c.1254 T?>?A | Sanger sequencing |