Table 3 of
Yu, Mol Vis 2021; 27:734-740. Table 3 of
Yu, Mol Vis 2021; 27:734-740.
Table 3. The Allele Frequencies and silico prediction for the variants found in patients.
| Gene | variant | GnomAD, ALL | GnomAD, EAS | GERP++_RS | CADD | SIFT | Polyphen-2 | MutationTaser |
|---|---|---|---|---|---|---|---|---|
| MYRF | c.349G>A, p.G117S (het) | 8.49*10−6 | 1.11*10−5 | C (4.44) | D (17.09) | D | B | N |
| MYRF | c.3170A>G, p.H1057R (hom) | 6.98*10−5 | 9.66*10−4 | C (4.26) | D (15.63) | D | PD | D |
| MYRF | c.689A>G, p.H230R (het) | 1.15*10−5 | 1.52*10−4 | C (4.35) | D (23.2) | D | D | D |
| MYRF | c.946C>T, p.R316C (het) | 3.90*10−5 | 1.50*10−4 | C (2.55) | D (25.1) | D | PD | D |
| CRB1 | c.2585C>G, p.T862S (het) | 7.98*10−6 | 1.09*10−4 | C (5.34) | D (22.5) | D | D | D |
| BEST1 | c.274C>G, p.R92G (het) | - | - | C (5.03) | D (32) | D | D | D |
| MFRP | c.496C>G, p.P166A (het) | 4.67*10−4 | 0.00598 | C (2.06) | D (21.6) | T | D | D |