| 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 |
| 9 | g.99137964A= | CA1867255778 | TGFBR1 | c.473A= (p.Glu158=) c.485A= (p.Glu162=) c.380-4572A= (n.380-4572A=) c.242A= (p.Glu81=) c.*476A= (n.*476A=) c.680A= (p.Glu227=) c.449A= (p.Glu150=) c.692A= (p.Glu231=) | dbSNP |
| 9 | g.99137964A>C | CA374229661 | TGFBR1 | c.473A>C (p.Glu158Ala) c.485A>C (p.Glu162Ala) c.380-4572A>C (n.380-4572A>C) c.242A>C (p.Glu81Ala) c.*476A>C (n.*476A>C) c.680A>C (p.Glu227Ala) c.449A>C (p.Glu150Ala) c.692A>C (p.Glu231Ala) | ClinVar dbSNP |