| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840473G>A | CA200893 | PAH | c.1242C>T (p.Tyr414=) c.1227C>T (p.Tyr409=) n.904C>T c.346C>T n.757C>T c.1185C>T (p.Tyr395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840473G>T | CA16020977 | PAH | c.1242C>A (p.Tyr414Ter) c.1227C>A (p.Tyr409Ter) n.904C>A c.346C>A n.757C>A c.1185C>A (p.Tyr395Ter) | ClinVar dbSNP |
| 12 | g.102840473G= | CA2059441798 | PAH | c.1242C= (p.Tyr414=) c.1227C= (p.Tyr409=) n.904C= c.346C= n.757C= c.1185C= (p.Tyr395=) | dbSNP |
| 12 | g.102840473G>C | CA386493054 | PAH | c.1242C>G (p.Tyr414Ter) c.1227C>G (p.Tyr409Ter) n.904C>G c.346C>G n.757C>G c.1185C>G (p.Tyr395Ter) | dbSNP gnomAD v4 |