| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26480982C>T | CA345090 | OTOF | c.1607G>A (p.Trp536Ter) c.1652G>A (p.Trp551Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26480982C>G | CA1564213 | OTOF | c.1607G>C (p.Trp536Ser) c.1652G>C (p.Trp551Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26480982C= | CA1239827914 | OTOF | c.1607G= (p.Trp536=) c.1652G= (p.Trp551=) | dbSNP |