| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149038376C>T | CA342391 | SH3TC2 | c.810G>A c.920G>A (p.Trp307Ter) c.182G>A (p.Trp61Ter) c.*178G>A (n.*178G>A) n.387G>A c.320G>A (p.Trp107Ter) c.*700G>A (n.*700G>A) c.899G>A (p.Trp300Ter) | ClinVar dbSNP |
| 5 | g.149038376C= | CA1590317323 | SH3TC2 | c.810G= c.920G= (p.Trp307=) c.182G= (p.Trp61=) c.*178G= (n.*178G=) n.387G= c.320G= (p.Trp107=) c.*700G= (n.*700G=) c.899G= (p.Trp300=) | dbSNP |