| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26458074G>C | CA117970 | OTOF | c.*164C>G (n.*164C>G) c.3659C>G (p.Pro1220Arg) c.5960C>G (p.Pro1987Arg) c.5945C>G (p.Pro1982Arg) c.6005C>G (p.Pro2002Arg) | ClinVar dbSNP |
| 2 | g.26458074G= | CA1239822138 | OTOF | c.*164C= (n.*164C=) c.3659C= (p.Pro1220=) c.5960C= (p.Pro1987=) c.5945C= (p.Pro1982=) c.6005C= (p.Pro2002=) | dbSNP |