| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.89284930G>C | CA6221409 | TYR | c.1342G>C (p.Asp448His) n.340G>C n.2456+1104C>G n.2457+1104C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.89284930G>A | CA227526 | TYR | c.1342G>A (p.Asp448Asn) n.340G>A n.2456+1104C>T n.2457+1104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.89284930G= | CA1989972182 | TYR | c.1342G= (p.Asp448=) n.340G= n.2456+1104C= n.2457+1104C= | dbSNP |