| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852858G>A | CA16020861 | PAH | c.799C>T (p.Gln267Ter) c.784C>T (p.Gln262Ter) n.558C>T | ClinVar dbSNP COSMIC |
| 12 | g.102852858G>C | CA229769 | PAH | c.799C>G (p.Gln267Glu) c.784C>G (p.Gln262Glu) n.558C>G | ClinVar dbSNP |
| 12 | g.102852858G= | CA2059446362 | PAH | c.799C= (p.Gln267=) c.784C= (p.Gln262=) n.558C= | dbSNP |