| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99132686G>T | CA008534 | TGFBR1 | c.314G>T (p.Gly105Val) c.326G>T (p.Gly109Val) c.136+3586G>T (n.136+3586G>T) c.*317G>T (n.*317G>T) c.521G>T (p.Gly174Val) c.343+3586G>T (n.343+3586G>T) c.533G>T (p.Gly178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132686G= | CA1867274729 | TGFBR1 | c.314G= (p.Gly105=) c.326G= (p.Gly109=) c.136+3586G= (n.136+3586G=) c.*317G= (n.*317G=) c.521G= (p.Gly174=) c.343+3586G= (n.343+3586G=) c.533G= (p.Gly178=) | dbSNP |