| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26495011G>T | CA262051 | OTOF | c.828C>A (p.Cys276Ter) c.873C>A (p.Cys291Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26495011G>A | CA1564485 | OTOF | c.828C>T (p.Cys276=) c.873C>T (p.Cys291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26495011G= | CA1239836423 | OTOF | c.828C= (p.Cys276=) c.873C= (p.Cys291=) | dbSNP |