| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132906053G>C | CA375365248 | TSC1 | c.1522C>G (p.Arg508Gly) c.1525C>G (p.Arg509Gly) c.1138C>G (p.Arg380Gly) c.1162C>G (p.Arg388Gly) c.1369C>G (p.Arg457Gly) c.*1295C>G (n.*1295C>G) c.1372C>G (p.Arg458Gly) c.43C>G (p.Arg15Gly) c.262C>G (p.Arg88Gly) c.*1292C>G (n.*1292C>G) n.1900C>G n.480C>G n.2376C>G n.490C>G c.*764C>G (n.*764C>G) n.2401C>G n.589C>G c.1159C>G (p.Arg387Gly) | dbSNP |
| 9 | g.132906053G>T | CA467591151 | TSC1 | c.1522C>A (p.Arg508=) c.1525C>A (p.Arg509=) c.1138C>A (p.Arg380=) c.1162C>A (p.Arg388=) c.1369C>A (p.Arg457=) c.*1295C>A (n.*1295C>A) c.1372C>A (p.Arg458=) c.43C>A (p.Arg15=) c.262C>A (p.Arg88=) c.*1292C>A (n.*1292C>A) n.1900C>A n.480C>A n.2376C>A n.490C>A c.*764C>A (n.*764C>A) n.2401C>A n.589C>A c.1159C>A (p.Arg387=) | dbSNP gnomAD v4 |
| 9 | g.132906053G>A | CA004986 | TSC1 | c.1522C>T (p.Arg508Ter) c.1525C>T (p.Arg509Ter) c.1138C>T (p.Arg380Ter) c.1162C>T (p.Arg388Ter) c.1369C>T (p.Arg457Ter) c.*1295C>T (n.*1295C>T) c.1372C>T (p.Arg458Ter) c.43C>T (p.Arg15Ter) c.262C>T (p.Arg88Ter) c.*1292C>T (n.*1292C>T) n.1900C>T n.480C>T n.2376C>T n.490C>T c.*764C>T (n.*764C>T) n.2401C>T n.589C>T c.1159C>T (p.Arg387Ter) | ClinVar dbSNP |