| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181370C>G | CA323542 | SMAD3 | c.203C>G (p.Pro68Arg) c.473C>G (p.Pro158Arg) c.788C>G (p.Pro263Arg) n.491C>G c.656C>G (p.Pro219Arg) n.282+6786C>G c.641C>G (p.Pro214Arg) | ClinVar dbSNP |
| 15 | g.67181370C>T | CA020114 | SMAD3 | c.203C>T (p.Pro68Leu) c.473C>T (p.Pro158Leu) c.788C>T (p.Pro263Leu) n.491C>T c.656C>T (p.Pro219Leu) n.282+6786C>T c.641C>T (p.Pro214Leu) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67181370C= | CA2184414850 | SMAD3 | c.203C= (p.Pro68=) c.473C= (p.Pro158=) c.788C= (p.Pro263=) n.491C= c.656C= (p.Pro219=) n.282+6786C= c.641C= (p.Pro214=) | dbSNP |