| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67190480G>C | CA322624 | SMAD3 | c.637G>C (p.Asp213His) c.907G>C (p.Asp303His) c.1333G>C (p.Asp445His) c.1222G>C (p.Asp408His) n.925G>C c.1090G>C (p.Asp364His) n.916G>C n.283-2393G>C c.414G>C c.1075G>C (p.Asp359His) | ClinVar dbSNP |
| 15 | g.67190480G>T | CA061735 | SMAD3 | c.637G>T (p.Asp213Tyr) c.907G>T (p.Asp303Tyr) c.1333G>T (p.Asp445Tyr) c.1222G>T (p.Asp408Tyr) n.925G>T c.1090G>T (p.Asp364Tyr) n.916G>T n.283-2393G>T c.414G>T c.1075G>T (p.Asp359Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |