| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26479325C>T | CA262042 | OTOF | c.2153G>A (p.Trp718Ter) c.2198G>A (p.Trp733Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26479325C>G | CA346127517 | OTOF | c.2153G>C (p.Trp718Ser) c.2198G>C (p.Trp733Ser) | dbSNP |
| 2 | g.26479325C= | CA1239832001 | OTOF | c.2153G= (p.Trp718=) c.2198G= (p.Trp733=) | dbSNP |