| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89191205G>A | CA382035682 | TYR | c.823G>A (p.Val275Ile) n.884G>A n.2718-77672C>T n.2733-77672C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.89191205G>T | CA227591 | TYR | c.823G>T (p.Val275Phe) n.884G>T n.2718-77672C>A n.2733-77672C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |