| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150357796A>G | CA16604898 | TCOF1 | c.50A>G (p.His17Arg) c.38A>G (p.His13Arg) c.14A>G (p.His5Arg) n.95A>G n.97A>G | ClinVar dbSNP |
| 5 | g.150357796A= | CA1590909166 | TCOF1 | c.50A= (p.His17=) c.38A= (p.His13=) c.14A= (p.His5=) n.95A= n.97A= | dbSNP |