| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178093G>A | CA227531 | TYR | c.140G>A (p.Gly47Asp) n.201G>A n.2718-64560C>T n.2733-64560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89178093G>T | CA382033556 | TYR | c.140G>T (p.Gly47Val) n.201G>T n.2718-64560C>A n.2733-64560C>A | dbSNP gnomAD v4 |
| 11 | g.89178093G= | CA1989919300 | TYR | c.140G= (p.Gly47=) n.201G= n.2718-64560C= n.2733-64560C= | dbSNP |