| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99137964A>G | CA042734 | TGFBR1 | c.473A>G (p.Glu158Gly) c.485A>G (p.Glu162Gly) c.380-4572A>G (n.380-4572A>G) c.242A>G (p.Glu81Gly) c.*476A>G (n.*476A>G) c.680A>G (p.Glu227Gly) c.449A>G (p.Glu150Gly) c.692A>G (p.Glu231Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99137964A>T | CA16618918 | TGFBR1 | c.473A>T (p.Glu158Val) c.485A>T (p.Glu162Val) c.380-4572A>T (n.380-4572A>T) c.242A>T (p.Glu81Val) c.*476A>T (n.*476A>T) c.680A>T (p.Glu227Val) c.449A>T (p.Glu150Val) c.692A>T (p.Glu231Val) | ClinVar dbSNP |