Table 2.
Genetic mutations identified in this study
| ID | Gene | Mutation | Protein change | Transcript | MuationTaster | Poly Phen-2 | Sift | CADD | gnomAD | References |
|---|---|---|---|---|---|---|---|---|---|---|
| F1-III:4 | FAM161A | c.1654_1655delAG | p.R552Afs*5 | NM_032180.3 | D | / | / | / | 0 | Novel |
| F2-III:3 | RDH12 | c.437 T > A | p.V146D | NM_152443.3 | D | D | D | 27 | 0.00001193 | Gong et al. [34] |
| F3-III:5 | USH2A | c.9469C > T | p.Q3157X | NM_206933.4 | D | / | / | 37 | 0.00001631 | Jiang et al. [35] |
| F4-III:4 | EYS | c.7228 + 1G > A | splicing | NM_001142800.2 | D | / | / | 25.9 | 0.00002783 | Gu et al. [36] |
| F5-III:1 | EYS | c.6174 T > G | p.Y2058X | NM_001142800.2 | D | / | / | 37 | 0 | ClinVar submitted |
| F6-III:1 | USH2A | c.9570 + 1G > A | splicing | NM_206933.4 | D | / | / | 24.6 | 0.0000408 | Xu et al. [37] |
| F7-III:4 | CRB1 | c.3991C > T | p.R1331C | NM_201253.3 | D | D | D | 32 | 0.00001989 | Tsang et al. [38] |
| F8-III:5 | CEP78 | c.830 T > C | p.L277P | NM_032171.3 | P | D | D | 23.2 | 0.00003244 | Novel |
| F9-III:2 | CYP4V2 | c.1091-2A > G | splicing | NM_207352.4 | D | / | / | 33 | 0.00004771 | Yin et al. [39] |
| F10-III:1 | IQCB1 | c.445_448delCTCT | p.L149Sfs*30 | NM_001023570.4 | D | / | / | / | 0 | Otto et al. [40] |
Homo, homozygous; Mutation Taster-D, disease causing; P, polymorphism; Polyphen-2-D, probably damaging; Sift-D, damaging