From: Identification of genomic features in the classification of loss- and gain-of-function mutation
REF | SUB | TYPE | SCORE | SL | PD | Class |
---|---|---|---|---|---|---|
A | G | Missense | 1.78 | Cell membrane | Cadherin | GoF |
T | G | Missense | 3.62 | Isoform2 | SelR | LoF |
T | A | Missense | -1.505 | Apical cell membrane | ASC | LoF |