| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691426C>G | CA351809489 | TGFBR2 | c.1531C>G (p.Gln511Glu) n.415C>G n.3127C>G n.409C>G c.1606C>G (p.Gln536Glu) c.1558C>G (p.Gln520Glu) c.1483C>G (p.Gln495Glu) c.1426C>G (p.Gln476Glu) | dbSNP |
| 3 | g.30691426C>T | CA16611191 | TGFBR2 | c.1531C>T (p.Gln511Ter) n.415C>T n.3127C>T n.409C>T c.1606C>T (p.Gln536Ter) c.1558C>T (p.Gln520Ter) c.1483C>T (p.Gln495Ter) c.1426C>T (p.Gln476Ter) | ClinVar dbSNP |
| 3 | g.30691426C= | CA1354881656 | TGFBR2 | c.1531C= (p.Gln511=) n.415C= n.3127C= n.409C= c.1606C= (p.Gln536=) c.1558C= (p.Gln520=) c.1483C= (p.Gln495=) c.1426C= (p.Gln476=) | dbSNP |