| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142554A>G | CA319831 | TGFBR1 | c.617A>G (p.Gln206Arg) c.629A>G (p.Gln210Arg) c.398A>G (p.Gln133Arg) c.386A>G (p.Gln129Arg) c.*620A>G (n.*620A>G) c.824A>G (p.Gln275Arg) c.593A>G (p.Gln198Arg) c.836A>G (p.Gln279Arg) | ClinVar dbSNP |
| 9 | g.99142554A= | CA1867259979 | TGFBR1 | c.617A= (p.Gln206=) c.629A= (p.Gln210=) c.398A= (p.Gln133=) c.386A= (p.Gln129=) c.*620A= (n.*620A=) c.824A= (p.Gln275=) c.593A= (p.Gln198=) c.836A= (p.Gln279=) | dbSNP |