| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26466731G>A | CA345125 | OTOF | c.4483C>T (p.Arg1495Ter) c.2182C>T (p.Arg728Ter) c.2242C>T (p.Arg748Ter) c.2413C>T (p.Arg805Ter) c.4468C>T (p.Arg1490Ter) c.4528C>T (p.Arg1510Ter) c.4423C>T (p.Arg1475Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26466731G>T | CA182456 | OTOF | c.4483C>A (p.Arg1495=) c.2182C>A (p.Arg728=) c.2242C>A (p.Arg748=) c.2413C>A (p.Arg805=) c.4468C>A (p.Arg1490=) c.4528C>A (p.Arg1510=) c.4423C>A (p.Arg1475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |