| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.126568304T>C | CA126901920 | ALDH7A1 | c.826A>G (p.Thr276Ala) c.*735A>G (n.*735A>G) c.415A>G c.374A>G n.1548A>G c.824A>G n.721A>G c.*635A>G (n.*635A>G) n.544A>G c.706A>G (p.Thr236Ala) c.986A>G (n.986A>G) c.871A>G (p.Thr291Ala) c.625A>G (p.Thr209Ala) n.2834A>G c.426+2478A>G c.772A>G (p.Thr258Ala) c.*715+2478A>G (n.*715+2478A>G) n.353A>G c.907A>G (p.Thr303Ala) c.742A>G (p.Thr248Ala) c.421A>G (p.Thr141Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.126568304T>G | CA313183 | ALDH7A1 | c.826A>C (p.Thr276Pro) c.*735A>C (n.*735A>C) c.415A>C c.374A>C n.1548A>C c.824A>C n.721A>C c.*635A>C (n.*635A>C) n.544A>C c.706A>C (p.Thr236Pro) c.986A>C (n.986A>C) c.871A>C (p.Thr291Pro) c.625A>C (p.Thr209Pro) n.2834A>C c.426+2478A>C c.772A>C (p.Thr258Pro) c.*715+2478A>C (n.*715+2478A>C) n.353A>C c.907A>C (p.Thr303Pro) c.742A>C (p.Thr248Pro) c.421A>C (p.Thr141Pro) | ClinVar dbSNP gnomAD v4 |