| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855315C>T | CA229606 | PAH | c.527G>A (p.Arg176Gln) c.512G>A (p.Arg171Gln) n.623G>A n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855315C>A | CA114371 | PAH | c.527G>T (p.Arg176Leu) c.512G>T (p.Arg171Leu) n.623G>T n.548G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102855315C>G | CA229608 | PAH | c.527G>C (p.Arg176Pro) c.512G>C (p.Arg171Pro) n.623G>C n.548G>C | ClinVar dbSNP |