| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178504C>T | CA6221137 | TYR | c.551C>T (p.Ser184Leu) n.612C>T n.2718-64971G>A n.2733-64971G>A | dbSNP ExAC gnomAD v2 |
| 11 | g.89178504C>G | CA270636 | TYR | c.551C>G (p.Ser184Ter) n.612C>G n.2718-64971G>C n.2733-64971G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89178504C= | CA1989920695 | TYR | c.551C= (p.Ser184=) n.612C= n.2718-64971G= n.2733-64971G= | dbSNP |