| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142664G>A | CA043448 | TGFBR1 | c.727G>A (p.Gly243Ser) c.739G>A (p.Gly247Ser) c.508G>A (p.Gly170Ser) c.496G>A (p.Gly166Ser) c.*730G>A (n.*730G>A) c.934G>A (p.Gly312Ser) c.703G>A (p.Gly235Ser) c.946G>A (p.Gly316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142664G= | CA1867260180 | TGFBR1 | c.727G= (p.Gly243=) c.739G= (p.Gly247=) c.508G= (p.Gly170=) c.496G= (p.Gly166=) c.*730G= (n.*730G=) c.934G= (p.Gly312=) c.703G= (p.Gly235=) c.946G= (p.Gly316=) | dbSNP |