Excess of pathogenic variants in AR genes in 848 unsolved patients with RP
| Chr | Position (bp) | Alleles (REF/ALT) | Gene | Amino acid change | Unsolved patients with RP | East Asian ALT freq (%) | Non-East Asian ALT freq (%) | P value | ||||
| AC | ALT freq (%) | HGVD | 1KG | Exac | gnomAD | |||||||
| 6 | 10 813 894 | G/GC | MAK | p.(Ala114fs) | 4 | 0.24 | – | – | 0.01 | 0.02 | – | 1.95×10−4 |
| 6 | 65 300 802 | C/CT | EYS | p.(Ser1653fs) | 100 | 5.90 | 0.34 | – | – | 9.18×10−3 | – | 6.91×10−86 |
| 6 | 64 431 122 | G/T | EYS | p.(Tyr2935*) | 35 | 2.06 | 0.48 | – | – | 0.06 | – | 2.14×10−12 |
| 6 | 64 791 763 | C/T | EYS | p.(Gly2186Glu) | 18 | 1.07 | – | – | – | 0.06 | – | 2.06×10−17 |
Pathogenic variants significantly enriched in unsolved patients with RP as compared with the general population are shown. P values were calculated by the one-sided binominal test. Bonferroni correction was applied to control false positives (α<6.58×10−4). Chromosomal positions are based on Build 37 (hg19).
AC, allele count; ALT, alternative allele; AR, autosomal recessive; Chr, Chromosome; Exac, Exome Aggregation Consortium; HGVD, Human Genetic Variation Database; 1KG, 1000 Genomes Project; REF, reference allele; RP, retinitis pigmentosa; freq, frequency; gnomAD, Genome Aggregation Database.