| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41332245G>C | CA16607838 | TGFB1 | c.897C>G (p.Tyr299Ter) c.749C>G (p.Thr250Arg) c.671C>G (p.Thr224Arg) c.185C>G n.209C>G c.900C>G (p.Tyr300Ter) | ClinVar dbSNP |
| 19 | g.41332245G>A | CA507554565 | TGFB1 | c.897C>T (p.Tyr299=) c.749C>T (p.Thr250Ile) c.671C>T (p.Thr224Ile) c.185C>T n.209C>T c.900C>T (p.Tyr300=) | dbSNP gnomAD v4 |
| 19 | g.41332245G= | CA2336416468 | TGFB1 | c.897C= (p.Tyr299=) c.749C= (p.Thr250=) c.671C= (p.Thr224=) c.185C= n.209C= c.900C= (p.Tyr300=) | dbSNP |