| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.23825380del | CA119226 | SMARCB1 | c.813del (p.Gln272SerfsTer2) c.978del (p.Gln327SerfsTer2) c.924del (p.Gln309SerfsTer2) n.2102del c.951del (p.Gln318SerfsTer2) c.1669del (n.1669del) n.2273del n.3297del n.863del c.*445del (n.*445del) c.1005del (p.Gln336SerfsTer2) | ClinVar dbSNP |
| 22 | g.23825380A= | CA3244240246 | SMARCB1 | c.813A= (p.Gly271=) c.978A= (p.Gly326=) c.924A= (p.Gly308=) n.2102A= c.951A= (p.Gly317=) c.1669A= (n.1669A=) n.2273A= n.3297A= n.863A= c.*445A= (n.*445A=) c.1005A= (p.Gly335=) | dbSNP |