| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26483581G>A | CA345087 | OTOF | c.1273C>T (p.Arg425Ter) c.1318C>T (p.Arg440Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26483581G>C | CA346136782 | OTOF | c.1273C>G (p.Arg425Gly) c.1318C>G (p.Arg440Gly) | dbSNP gnomAD v4 |
| 2 | g.26483581G= | CA1239830424 | OTOF | c.1273C= (p.Arg425=) c.1318C= (p.Arg440=) | dbSNP |