| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178477T>C | CA16619415 | TYR | c.524T>C (p.Leu175Pro) n.585T>C n.2718-64944A>G n.2733-64944A>G | ClinVar dbSNP |
| 11 | g.89178477T= | CA1989920591 | TYR | c.524T= (p.Leu175=) n.585T= n.2718-64944A= n.2733-64944A= | dbSNP |