| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178117G>A | CA227538 | TYR | c.164G>A (p.Cys55Tyr) n.225G>A n.2718-64584C>T n.2733-64584C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89178117G>C | CA6221052 | TYR | c.164G>C (p.Cys55Ser) n.225G>C n.2718-64584C>G n.2733-64584C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.89178117G= | CA1989919366 | TYR | c.164G= (p.Cys55=) n.225G= n.2718-64584C= n.2733-64584C= | dbSNP |