| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181369C>T | CA392956266 | SMAD3 | c.202C>T (p.Pro68Ser) c.472C>T (p.Pro158Ser) c.787C>T (p.Pro263Ser) n.490C>T c.655C>T (p.Pro219Ser) n.282+6785C>T c.640C>T (p.Pro214Ser) | ClinVar dbSNP |
| 15 | g.67181369C>G | CA321192 | SMAD3 | c.202C>G (p.Pro68Ala) c.472C>G (p.Pro158Ala) c.787C>G (p.Pro263Ala) n.490C>G c.655C>G (p.Pro219Ala) n.282+6785C>G c.640C>G (p.Pro214Ala) | ClinVar dbSNP |
| 15 | g.67181369C= | CA2184414841 | SMAD3 | c.202C= (p.Pro68=) c.472C= (p.Pro158=) c.787C= (p.Pro263=) n.490C= c.655C= (p.Pro219=) n.282+6785C= c.640C= (p.Pro214=) | dbSNP |