| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.23833681C>G | CA410913856 | SMARCB1 | c.958C>G (p.Arg320Gly) c.1123C>G (p.Arg375Gly) c.1069C>G (p.Arg357Gly) c.1096C>G (p.Arg366Gly) c.1814C>G (n.1814C>G) n.2418C>G n.3442C>G c.*590C>G (n.*590C>G) c.1150C>G (p.Arg384Gly) | ClinVar dbSNP |
| 22 | g.23833681C>A | CA410913855 | SMARCB1 | c.958C>A (p.Arg320Ser) c.1123C>A (p.Arg375Ser) c.1069C>A (p.Arg357Ser) c.1096C>A (p.Arg366Ser) c.1814C>A (n.1814C>A) n.2418C>A n.3442C>A c.*590C>A (n.*590C>A) c.1150C>A (p.Arg384Ser) | ClinVar dbSNP |
| 22 | g.23833681C>T | CA10588715 | SMARCB1 | c.958C>T (p.Arg320Cys) c.1123C>T (p.Arg375Cys) c.1069C>T (p.Arg357Cys) c.1096C>T (p.Arg366Cys) c.1814C>T (n.1814C>T) n.2418C>T n.3442C>T c.*590C>T (n.*590C>T) c.1150C>T (p.Arg384Cys) | ClinVar dbSNP COSMIC COSMIC |