| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99138041A>T | CA374230198 | TGFBR1 | c.550A>T (p.Met184Leu) c.562A>T (p.Met188Leu) c.380-4495A>T (n.380-4495A>T) c.319A>T (p.Met107Leu) c.*553A>T (n.*553A>T) c.757A>T (p.Met253Leu) c.526A>T (p.Met176Leu) c.769A>T (p.Met257Leu) | dbSNP |
| 9 | g.99138041A>G | CA10587682 | TGFBR1 | c.550A>G (p.Met184Val) c.562A>G (p.Met188Val) c.380-4495A>G (n.380-4495A>G) c.319A>G (p.Met107Val) c.*553A>G (n.*553A>G) c.757A>G (p.Met253Val) c.526A>G (p.Met176Val) c.769A>G (p.Met257Val) | ClinVar dbSNP |