| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26476918G>A | CA1563829 | OTOF | c.2649C>T (p.Cys883=) c.408C>T (p.Cys136=) c.579C>T (p.Cys193=) c.2694C>T (p.Cys898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476918G>T | CA345106 | OTOF | c.2649C>A (p.Cys883Ter) c.408C>A (p.Cys136Ter) c.579C>A (p.Cys193Ter) c.2694C>A (p.Cys898Ter) | ClinVar dbSNP |