| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15642052A>G | CA70619393 | BTD | c.394A>G (p.Thr132Ala) n.1233A>G c.160A>G (p.Thr54Ala) c.454A>G (p.Thr152Ala) c.460A>G (p.Thr154Ala) c.172A>G (p.Thr58Ala) n.529A>G | dbSNP gnomAD v4 |
| 3 | g.15642052A>C | CA278208 | BTD | c.394A>C (p.Thr132Pro) n.1233A>C c.160A>C (p.Thr54Pro) c.454A>C (p.Thr152Pro) c.460A>C (p.Thr154Pro) c.172A>C (p.Thr58Pro) n.529A>C | dbSNP |