| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89227897A>G | CA382028614 | TYR | c.1111A>G (p.Asn371Asp) n.2717+43563T>C n.2732+43563T>C | dbSNP gnomAD v4 |
| 11 | g.89227897A>T | CA227498 | TYR | c.1111A>T (p.Asn371Tyr) n.2717+43563T>A n.2732+43563T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89227897A= | CA1989952116 | TYR | c.1111A= (p.Asn371=) n.2717+43563T= n.2732+43563T= | dbSNP |