| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26473999G>A | CA345117 | OTOF | c.3400C>T (p.Arg1134Ter) c.1159C>T (p.Arg387Ter) c.1330C>T (p.Arg444Ter) c.3445C>T (p.Arg1149Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26473999G>C | CA346107024 | OTOF | c.3400C>G (p.Arg1134Gly) c.1159C>G (p.Arg387Gly) c.1330C>G (p.Arg444Gly) c.3445C>G (p.Arg1149Gly) | dbSNP gnomAD v4 |
| 2 | g.26473999G= | CA1239824686 | OTOF | c.3400C= (p.Arg1134=) c.1159C= (p.Arg387=) c.1330C= (p.Arg444=) c.3445C= (p.Arg1149=) | dbSNP |