| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629742C>G | CA344592141 | LAMB3 | c.1127G>C (p.Cys376Ser) c.935G>C (p.Cys312Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209629742C>T | CA344592142 | LAMB3 | c.1127G>A (p.Cys376Tyr) c.935G>A (p.Cys312Tyr) | dbSNP |
| 1 | g.209629742C= | CA2484300767 | LAMB3 | c.1127G= (p.Cys376=) c.935G= (p.Cys312=) | dbSNP |