Table 3 of
Xiao, Mol Vis 2019; 25:35-46. Table 3 of
Xiao, Mol Vis 2019; 25:35-46.
Table 3. Identified variants in recessive inheritance, population frequencies, and in silico predictions of pathogenic function.
| Family | Gene | Nucleotide /Amino acid change | Previously reported | Variant type | ExAC frequency | SIFT | Polyphen2 | MT | Genotypes |
|---|---|---|---|---|---|---|---|---|---|
| HDIV | |||||||||
| RP-F1 | EYS | NM_001292009:exon44: | rs111991705 | Missense | 0.0098 | T | P | N | Heterozygous |
| c.8422G>A:p.Ala2808Thr | |||||||||
| EYS | NM_001292009:exon38: | Novel | Missense | Absent | D | D | D | Heterozygous | |
| c.7492G>C:p.Ala2498Pro | |||||||||
| RP-F2 | EYS | NM_001292009:exon41: | PMID:24652164 | Nonsense | Absent | . | . | . | Homozygous |
| c.8012T>A:p.Leu2671X | |||||||||
| EYS | NM_001292009:exon31: | PMID:25753737 | Missense | 0.00005274 | D | D | D | Homozygous | |
| c.6416G>A:p.Cys2139Tyr | |||||||||
| RPGR | NM_000328:exon11 | rs182345461 | Missense | 0.0001 | T | D | N | Homozygous | |
| c.C1282G:p.Leu428Val | |||||||||
| RP-F3 | EYS | NM_001292009:exon41: | PMID:24652164 | Nonsense | Absent | . | . | . | Heterozygous |
| c.8012T>A:p.Leu2671X | |||||||||
| EYS | NM_001292009:exon31: | PMID: 25,753,737 | Missense | 0.00005274 | D | D | D | Heterozygous | |
| c.6416G>A:p.Cys2139Tyr |