| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.23833672A>G | CA209485 | SMARCB1 | c.949A>G (p.Lys317Glu) c.1114A>G (p.Lys372Glu) c.1060A>G (p.Lys354Glu) c.1087A>G (p.Lys363Glu) c.1805A>G (n.1805A>G) n.2409A>G n.3433A>G c.*581A>G (n.*581A>G) c.1141A>G (p.Lys381Glu) | ClinVar dbSNP |
| 22 | g.23833672A= | CA2397980973 | SMARCB1 | c.949A= (p.Lys317=) c.1114A= (p.Lys372=) c.1060A= (p.Lys354=) c.1087A= (p.Lys363=) c.1805A= (n.1805A=) n.2409A= n.3433A= c.*581A= (n.*581A=) c.1141A= (p.Lys381=) | dbSNP |