| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843698G>A | CA16020949 | PAH | c.1147C>T (p.Gln383Ter) c.1132C>T (p.Gln378Ter) n.906C>T n.809C>T c.251C>T n.662C>T c.1090C>T (p.Gln364Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843698G= | CA2059446555 | PAH | c.1147C= (p.Gln383=) c.1132C= (p.Gln378=) n.906C= n.809C= c.251C= n.662C= c.1090C= (p.Gln364=) | dbSNP |