| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132906080G>T | CA467591183 | TSC1 | c.1495C>A (p.Arg499=) c.1498C>A (p.Arg500=) c.1111C>A (p.Arg371=) c.1135C>A (p.Arg379=) c.1342C>A (p.Arg448=) c.*1268C>A (n.*1268C>A) c.1345C>A (p.Arg449=) c.16C>A (p.Arg6=) c.235C>A (p.Arg79=) c.*1265C>A (n.*1265C>A) n.1873C>A n.453C>A n.2349C>A n.463C>A c.*737C>A (n.*737C>A) n.2374C>A n.562C>A c.1132C>A (p.Arg378=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132906080G>A | CA004940 | TSC1 | c.1495C>T (p.Arg499Ter) c.1498C>T (p.Arg500Ter) c.1111C>T (p.Arg371Ter) c.1135C>T (p.Arg379Ter) c.1342C>T (p.Arg448Ter) c.*1268C>T (n.*1268C>T) c.1345C>T (p.Arg449Ter) c.16C>T (p.Arg6Ter) c.235C>T (p.Arg79Ter) c.*1265C>T (n.*1265C>T) n.1873C>T n.453C>T n.2349C>T n.463C>T c.*737C>T (n.*737C>T) n.2374C>T n.562C>T c.1132C>T (p.Arg378Ter) | ClinVar dbSNP gnomAD v4 COSMIC |