| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99137993A>T | CA374229752 | TGFBR1 | c.502A>T (p.Arg168Ter) c.514A>T (p.Arg172Ter) c.380-4543A>T (n.380-4543A>T) c.271A>T (p.Arg91Ter) c.*505A>T (n.*505A>T) c.709A>T (p.Arg237Ter) c.478A>T (p.Arg160Ter) c.721A>T (p.Arg241Ter) | dbSNP |
| 9 | g.99137993A>G | CA323375 | TGFBR1 | c.502A>G (p.Arg168Gly) c.514A>G (p.Arg172Gly) c.380-4543A>G (n.380-4543A>G) c.271A>G (p.Arg91Gly) c.*505A>G (n.*505A>G) c.709A>G (p.Arg237Gly) c.478A>G (p.Arg160Gly) c.721A>G (p.Arg241Gly) | ClinVar dbSNP |