| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674123A>C | CA351808905 | TGFBR2 | c.1273A>C (p.Met425Leu) n.2869A>C n.151A>C c.1348A>C (p.Met450Leu) c.1300A>C (p.Met434Leu) c.1225A>C (p.Met409Leu) c.1168A>C (p.Met390Leu) | ClinVar dbSNP |
| 3 | g.30674123A>G | CA020640 | TGFBR2 | c.1273A>G (p.Met425Val) n.2869A>G n.151A>G c.1348A>G (p.Met450Val) c.1300A>G (p.Met434Val) c.1225A>G (p.Met409Val) c.1168A>G (p.Met390Val) | ClinVar dbSNP |
| 3 | g.30674123A>T | CA351808904 | TGFBR2 | c.1273A>T (p.Met425Leu) n.2869A>T n.151A>T c.1348A>T (p.Met450Leu) c.1300A>T (p.Met434Leu) c.1225A>T (p.Met409Leu) c.1168A>T (p.Met390Leu) | ClinVar dbSNP |
| 3 | g.30674123A= | CA1354873992 | TGFBR2 | c.1273A= (p.Met425=) n.2869A= n.151A= c.1348A= (p.Met450=) c.1300A= (p.Met434=) c.1225A= (p.Met409=) c.1168A= (p.Met390=) | dbSNP |