| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11013112C>G | CA404053367 | SMARCA4 | c.2438C>G (p.Ser813Ter) c.2429C>G (p.Ser810Ter) c.2311C>G n.769C>G c.923C>G (p.Ser308Ter) c.995C>G (p.Ser332Ter) c.723C>G c.793C>G c.1852C>G c.1165C>G n.793C>G c.695C>G c.1209C>G c.1083C>G c.926C>G (p.Ser309Ter) c.302C>G (p.Ser101Ter) c.784C>G c.272C>G (p.Ser91Ter) c.286C>G (n.286C>G) c.738C>G c.791C>G (p.Ser264Ter) c.2630C>G (p.Ser877Ter) n.2312C>G n.351C>G n.2614C>G | dbSNP |
| 19 | g.11013112C>T | CA16620728 | SMARCA4 | c.2438C>T (p.Ser813Leu) c.2429C>T (p.Ser810Leu) c.2311C>T n.769C>T c.923C>T (p.Ser308Leu) c.995C>T (p.Ser332Leu) c.723C>T c.793C>T c.1852C>T c.1165C>T n.793C>T c.695C>T c.1209C>T c.1083C>T c.926C>T (p.Ser309Leu) c.302C>T (p.Ser101Leu) c.784C>T c.272C>T (p.Ser91Leu) c.286C>T (n.286C>T) c.738C>T c.791C>T (p.Ser264Leu) c.2630C>T (p.Ser877Leu) n.2312C>T n.351C>T n.2614C>T | ClinVar dbSNP |