Patient | Age | Diagnosis | Gene | Location in gene | Function | Amino acid change | SIFT | Mutation taster | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|
F150 | 6Ā months | TOF | FGF8 | Exon1 | Benign | 29G>A | 0.88 | Polymorphism | 0 |
F059 | 1Ā year | TOF/PFO/ASD | FG8 | Exon6 | Probably damage | 551G>A | 0 | Disease causing | 0.999 |
S033 | 5Ā months | SA/SV/CAVC/PS/PH | FGF10 | Exon1 | ā | 68_70del | ā | Disease causing | ā |