Table 2.
Genetic test results of 5 probands with early onset high myopia (F)
| F1 | F2 | F3 | F4 | F5 | |
|---|---|---|---|---|---|
| Gene | OPN1LW | RP2 | GPR143 | FRMD7 | HMGB3 |
| Nucleotide | c.797_801del | c.513G > A | c.98G > T | c.1876_1877del | c.670_675del |
| Amino acid | p.Val266Alafs*75 | p.Trp171Ter | p.Cys33Phe |
p.Met626Valfs* 22 |
p.Glu192_Glu193del |
| Chromosome |
chrX: 153,421,821- 153,421,825 |
chrX: 46,713,321 |
chrX: 9,733,760 |
chrX: 131,212,168- 131,212,169 |
chrX: 150,156,358- 150,156,363 |
| Exon | exon5 | exon2 | exon1 | exon12 | exon5 |
| SIFT | D | ||||
| Polyphen2_HDIV | D | ||||
| Polyphen2_HVAR | D | ||||
| LRT | D | D | |||
| Mutation Assessor | M | ||||
| REVEL | 0.869 | ||||
| phyloP100way | 0.829 | 5.298 | |||
| phastCons100way | 0.866 | 1 | |||
| FATHMM | D | ||||
| CADD | 5.116 | 3.806 | |||
| PROVEAN | D | ||||
| Mutation Taster | A | D | |||
| GERP++ | 5.62 | 4.51 |