| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.47848537C>G | CA249847 | SMAD2 | c.935G>C (p.Cys312Ser) c.845G>C (p.Cys282Ser) c.809G>C (p.Cys270Ser) c.776G>C (p.Cys259Ser) c.215G>C (p.Cys72Ser) c.788G>C (p.Cys263Ser) | ClinVar dbSNP |
| 18 | g.47848537C>T | CA402504369 | SMAD2 | c.935G>A (p.Cys312Tyr) c.845G>A (p.Cys282Tyr) c.809G>A (p.Cys270Tyr) c.776G>A (p.Cys259Tyr) c.215G>A (p.Cys72Tyr) c.788G>A (p.Cys263Tyr) | dbSNP |