| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26479356G>A | CA342562 | OTOF | c.2122C>T (p.Arg708Ter) c.2167C>T (p.Arg723Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26479356G>T | CA1564055 | OTOF | c.2122C>A (p.Arg708=) c.2167C>A (p.Arg723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26479356G>C | CA346127835 | OTOF | c.2122C>G (p.Arg708Gly) c.2167C>G (p.Arg723Gly) | dbSNP |
| 2 | g.26479356G= | CA1239826281 | OTOF | c.2122C= (p.Arg708=) c.2167C= (p.Arg723=) | dbSNP |