| 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 |
| 9 | g.132906080G>C | CA375365376 | TSC1 | c.1495C>G (p.Arg499Gly) c.1498C>G (p.Arg500Gly) c.1111C>G (p.Arg371Gly) c.1135C>G (p.Arg379Gly) c.1342C>G (p.Arg448Gly) c.*1268C>G (n.*1268C>G) c.1345C>G (p.Arg449Gly) c.16C>G (p.Arg6Gly) c.235C>G (p.Arg79Gly) c.*1265C>G (n.*1265C>G) n.1873C>G n.453C>G n.2349C>G n.463C>G c.*737C>G (n.*737C>G) n.2374C>G n.562C>G c.1132C>G (p.Arg378Gly) | dbSNP |
| 9 | g.132906080G= | CA1882414908 | TSC1 | c.1495C= (p.Arg499=) c.1498C= (p.Arg500=) c.1111C= (p.Arg371=) c.1135C= (p.Arg379=) c.1342C= (p.Arg448=) c.*1268C= (n.*1268C=) c.1345C= (p.Arg449=) c.16C= (p.Arg6=) c.235C= (p.Arg79=) c.*1265C= (n.*1265C=) n.1873C= n.453C= n.2349C= n.463C= c.*737C= (n.*737C=) n.2374C= n.562C= c.1132C= (p.Arg378=) | dbSNP |