| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89284797G>A | CA476320914 | TYR | c.1209G>A (p.Arg403=) n.207G>A n.2456+1237C>T n.2457+1237C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.89284797G>T | CA227516 | TYR | c.1209G>T (p.Arg403Ser) n.207G>T n.2456+1237C>A n.2457+1237C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |