View de novo Variants from PubMed ID: 27848944
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG55636 | CHD7 | Nonsense | c.2959C>T | p.(R987*) | |||||||
| AutG23314 | SATB2 | Splicing | c.1542+1G>A | p.? | |||||||
| AutG55777 | MBD5 | Frameshift | c.288_301del | p.(K98*) | |||||||
| AutG2904 | GRIN2B | Nonsense | c.737C>A | p.(S246*) | |||||||
| AutG6812 | STXBP1 | Nonsense | c.703C>T | p.(R235*) |