| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89227932C>A | CA227506 | TYR | c.1146C>A (p.Asn382Lys) n.2717+43528G>T n.2732+43528G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.89227932C>T | CA6221355 | TYR | c.1146C>T (p.Asn382=) n.2717+43528G>A n.2732+43528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.89227932C= | CA1989952311 | TYR | c.1146C= (p.Asn382=) n.2717+43528G= n.2732+43528G= | dbSNP |