| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67165052G>A | CA020081 | SMAD3 | c.49G>A (p.Val17Met) c.364G>A (p.Val122Met) c.232G>A (p.Val78Met) n.214G>A c.217G>A (p.Val73Met) | ClinVar dbSNP |
| 15 | g.67165052G= | CA2184410383 | SMAD3 | c.49G= (p.Val17=) c.364G= (p.Val122=) c.232G= (p.Val78=) n.214G= c.217G= (p.Val73=) | dbSNP |
| 15 | g.67165052G>C | CA392954136 | SMAD3 | c.49G>C (p.Val17Leu) c.364G>C (p.Val122Leu) c.232G>C (p.Val78Leu) n.214G>C c.217G>C (p.Val73Leu) | dbSNP gnomAD v4 |
| 15 | g.67165052G>T | CA392954135 | SMAD3 | c.49G>T (p.Val17Leu) c.364G>T (p.Val122Leu) c.232G>T (p.Val78Leu) n.214G>T c.217G>T (p.Val73Leu) | ClinVar dbSNP gnomAD v4 |