| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89178599T>A | CA227576 | TYR | c.646T>A (p.Leu216Met) n.707T>A n.2718-65066A>T n.2733-65066A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89178599T>C | CA6221163 | TYR | c.646T>C (p.Leu216=) n.707T>C n.2718-65066A>G n.2733-65066A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |