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Table 1 A direct comparison of the novel mutation, p.Thr138Asn, and a known pathogenic variant in RS1. Both variants were analysed with the same bioinformatic pipeline and have been scored by the same computational tools

From: Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Variant Nucleotide Protein DBSNP ID MetaLR M-CAP REVEL ClinVar Report
Novel c.413C > A p.Thr138Asn None 0.9742 0.8775 0.929 None
Known c.636G > A p.Arg209His rs281865362 0.9446 0.9233 0.796 Pathogenic