Table 2.
Mutations identified in this study
| Gene | Variation | Status | Bioinformatics analysis | Reported or Novel | Population prevalence (allele count) | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | SIFT | PolyPhen | PROVEN | rs no. | gnomAD | EXAC | |||
| C8ORF37 | c.555G>A | p.W185* | Hom | NA | NA | NA | Novel | rs748014296 | 2/246148 | 1/121412 |
| OFD1 | c.358A>G | p.T120A | Hem | 0.63 (tolerated) | 0.006 (benign) | − 0.616 (netural) | Novel | rs755625951 | 4/178544 | 1/121388 |
| TULP1 | c.1255C>T | p.R419W | Hom | 0 (damaging) | 1 (probably damaging) | − 7.976 (deleterious) | Novel | rs775334320 | 12/217192 | 6/121222 |
| RP1 | c.2285_2289delTAAAT | p.L762Yfs*17 | Het | NA | NA | NA | Novel | NA | NA | NA |
Hom homozygous, Hem hemizygous, Het heterozygous, NA not available
SIFT: http://sift.bii.a-star.edu.sg/; PolyPhen: http://genetics.bwh.harvard.edu/pph2/; PROVEN: http://provean.jcvi.org/index.php; gnomAD: http://gnomad.broadinstitute.org/; EXAC: http://exac.broadinstitute.org/