| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89177954A>G | CA227539 | TYR | c.1A>G (p.Met1Val) n.62A>G n.2718-64421T>C n.2733-64421T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89177954A= | CA1989918700 | TYR | c.1A= (p.Met1=) n.62A= n.2718-64421T= n.2733-64421T= | dbSNP |
| 11 | g.89177954A>C | CA382032819 | TYR | c.1A>C (p.Met1Leu) n.62A>C n.2718-64421T>G n.2733-64421T>G | dbSNP gnomAD v4 |