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| Nucleotide Change | VSX1 transcript ID | Protein alteration | Exon/ UTR/ intron | Patients (n=50) | Controls (n=50) | Reference/ SNP ID | Polyphen/SIFT prediction |
|---|---|---|---|---|---|---|---|
| g.25059546A>G (rs12480307) | NM_014588 | p.A182A | Exon 3 | 25/50 | 29/50 | [20] | – |
| g.25059442G>A (rs6138482) | NM_0199425 | p.R217H | Exon 3 | 1/50 | Absent | [20] | Non-pathogenic |
| g.25059381T>A (rs56157240) | NM_0199425 | p.P237P | Exon 3 | 18/50 | 14/50 | [20] | – |
| g.25059612C>T | – | – | Intron 2 | 3/50 | Absent | Novel | – |
