| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26476018G>A | CA342566 | OTOF | c.2887C>T (p.Arg963Ter) c.646C>T (p.Arg216Ter) c.817C>T (p.Arg273Ter) c.2932C>T (p.Arg978Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476018G= | CA1239827794 | OTOF | c.2887C= (p.Arg963=) c.646C= (p.Arg216=) c.817C= (p.Arg273=) c.2932C= (p.Arg978=) | dbSNP |