| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840495G>A | CA229402 | PAH | c.1220C>T (p.Pro407Leu) c.1205C>T (p.Pro402Leu) n.882C>T c.324C>T n.735C>T c.1163C>T (p.Pro388Leu) | ClinVar dbSNP |
| 12 | g.102840495G= | CA2059441966 | PAH | c.1220C= (p.Pro407=) c.1205C= (p.Pro402=) n.882C= c.324C= n.735C= c.1163C= (p.Pro388=) | dbSNP |