| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99138006C>T | CA008855 | TGFBR1 | c.515C>T (p.Ser172Leu) c.527C>T (p.Ser176Leu) c.380-4530C>T (n.380-4530C>T) c.284C>T (p.Ser95Leu) c.*518C>T (n.*518C>T) c.722C>T (p.Ser241Leu) c.491C>T (p.Ser164Leu) c.734C>T (p.Ser245Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.99138006C>A | CA374229796 | TGFBR1 | c.515C>A (p.Ser172Ter) c.527C>A (p.Ser176Ter) c.380-4530C>A (n.380-4530C>A) c.284C>A (p.Ser95Ter) c.*518C>A (n.*518C>A) c.722C>A (p.Ser241Ter) c.491C>A (p.Ser164Ter) c.734C>A (p.Ser245Ter) | dbSNP gnomAD v2 gnomAD v4 |