| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67187436G>C | CA324625 | SMAD3 | c.496G>C (p.Glu166Gln) c.766G>C (p.Glu256Gln) c.1192G>C (p.Glu398Gln) c.1081G>C (p.Glu361Gln) n.784G>C c.949G>C (p.Glu317Gln) n.775G>C c.628G>C (p.Glu210Gln) n.283-5437G>C c.273G>C c.934G>C (p.Glu312Gln) | ClinVar dbSNP |
| 15 | g.67187436G>T | CA020037 | SMAD3 | c.496G>T (p.Glu166Ter) c.766G>T (p.Glu256Ter) c.1192G>T (p.Glu398Ter) c.1081G>T (p.Glu361Ter) n.784G>T c.949G>T (p.Glu317Ter) n.775G>T c.628G>T (p.Glu210Ter) n.283-5437G>T c.273G>T c.934G>T (p.Glu312Ter) | ClinVar dbSNP |
| 15 | g.67187436G>A | CA16621675 | SMAD3 | c.496G>A (p.Glu166Lys) c.766G>A (p.Glu256Lys) c.1192G>A (p.Glu398Lys) c.1081G>A (p.Glu361Lys) n.784G>A c.949G>A (p.Glu317Lys) n.775G>A c.628G>A (p.Glu210Lys) n.283-5437G>A c.273G>A c.934G>A (p.Glu312Lys) | ClinVar dbSNP |