| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99149237A>C | CA466436205 | TGFBR1 | c.1237A>C (p.Arg413=) c.1249A>C (p.Arg417=) c.*366A>C (n.*366A>C) c.1006A>C (p.Arg336=) c.*1240A>C (n.*1240A>C) n.1011A>C c.1444A>C (p.Arg482=) c.1213A>C (p.Arg405=) c.*179A>C (n.*179A>C) c.1456A>C (p.Arg486=) | dbSNP |
| 9 | g.99149237A>G | CA008762 | TGFBR1 | c.1237A>G (p.Arg413Gly) c.1249A>G (p.Arg417Gly) c.*366A>G (n.*366A>G) c.1006A>G (p.Arg336Gly) c.*1240A>G (n.*1240A>G) n.1011A>G c.1444A>G (p.Arg482Gly) c.1213A>G (p.Arg405Gly) c.*179A>G (n.*179A>G) c.1456A>G (p.Arg486Gly) | ClinVar dbSNP |
| 9 | g.99149237A>T | CA374233674 | TGFBR1 | c.1237A>T (p.Arg413Trp) c.1249A>T (p.Arg417Trp) c.*366A>T (n.*366A>T) c.1006A>T (p.Arg336Trp) c.*1240A>T (n.*1240A>T) n.1011A>T c.1444A>T (p.Arg482Trp) c.1213A>T (p.Arg405Trp) c.*179A>T (n.*179A>T) c.1456A>T (p.Arg486Trp) | dbSNP |