| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.47869288C>A | CA16620692 | SMAD2 | c.475G>T (p.Glu159Ter) c.385G>T (p.Glu129Ter) n.344G>T c.349G>T (p.Glu117Ter) c.316G>T (p.Glu106Ter) c.328G>T (p.Glu110Ter) c.-292G>T (n.-292G>T) | ClinVar dbSNP |
| 18 | g.47869288C>T | CA402501911 | SMAD2 | c.475G>A (p.Glu159Lys) c.385G>A (p.Glu129Lys) n.344G>A c.349G>A (p.Glu117Lys) c.316G>A (p.Glu106Lys) c.328G>A (p.Glu110Lys) c.-292G>A (n.-292G>A) | dbSNP |
| 18 | g.47869288C>G | CA402501910 | SMAD2 | c.475G>C (p.Glu159Gln) c.385G>C (p.Glu129Gln) n.344G>C c.349G>C (p.Glu117Gln) c.316G>C (p.Glu106Gln) c.328G>C (p.Glu110Gln) c.-292G>C (n.-292G>C) | dbSNP |