| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178660G>A | CA227583 | TYR | c.707G>A (p.Trp236Ter) n.768G>A n.2718-65127C>T n.2733-65127C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.89178660G>C | CA227585 | TYR | c.707G>C (p.Trp236Ser) n.768G>C n.2718-65127C>G n.2733-65127C>G | ClinVar dbSNP |
| 11 | g.89178660G= | CA1989921181 | TYR | c.707G= (p.Trp236=) n.768G= n.2718-65127C= n.2733-65127C= | dbSNP |