| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178603G>A | CA227580 | TYR | c.650G>A (p.Arg217Gln) n.711G>A n.2718-65070C>T n.2733-65070C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89178603G>C | CA382035052 | TYR | c.650G>C (p.Arg217Pro) n.711G>C n.2718-65070C>G n.2733-65070C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.89178603G>T | CA6221164 | TYR | c.650G>T (p.Arg217Leu) n.711G>T n.2718-65070C>A n.2733-65070C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |