| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26474524C>T | CA16617522 | OTOF | c.3277G>A (p.Glu1093Lys) c.1036G>A (p.Glu346Lys) c.1207G>A (p.Glu403Lys) c.3322G>A (p.Glu1108Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26474524C>G | CA346108309 | OTOF | c.3277G>C (p.Glu1093Gln) c.1036G>C (p.Glu346Gln) c.1207G>C (p.Glu403Gln) c.3322G>C (p.Glu1108Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26474524C>A | CA346108308 | OTOF | c.3277G>T (p.Glu1093Ter) c.1036G>T (p.Glu346Ter) c.1207G>T (p.Glu403Ter) c.3322G>T (p.Glu1108Ter) | dbSNP |