| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852902C>T | CA229743 | PAH | c.755G>A (p.Arg252Gln) c.740G>A (p.Arg247Gln) n.514G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852902C>G | CA16020854 | PAH | c.755G>C (p.Arg252Pro) c.740G>C (p.Arg247Pro) n.514G>C | ClinVar dbSNP |
| 12 | g.102852902C= | CA2059446547 | PAH | c.755G= (p.Arg252=) c.740G= (p.Arg247=) n.514G= | dbSNP |