| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154564451G>T | CA121476 | IKBKG | c.1214G>T (p.Cys405Phe) c.1250G>T (p.Cys417Phe) c.848G>T (p.Cys283Phe) c.1097G>T (p.Cys366Phe) c.1307G>T (p.Cys436Phe) c.953G>T (p.Cys318Phe) c.*1242G>T (n.*1242G>T) c.1226G>T (p.Cys409Phe) c.1247G>T (p.Cys416Phe) c.1454G>T (p.Cys485Phe) c.1229G>T (p.Cys410Phe) c.1451G>T (p.Cys484Phe) c.1321+431G>T (n.1321+431G>T) c.1301G>T (p.Cys434Phe) c.1094G>T (p.Cys365Phe) c.881G>T (p.Cys294Phe) n.1119G>T | ClinVar dbSNP |
| X | g.154564451G>A | CA219219 | IKBKG | c.1214G>A (p.Cys405Tyr) c.1250G>A (p.Cys417Tyr) c.848G>A (p.Cys283Tyr) c.1097G>A (p.Cys366Tyr) c.1307G>A (p.Cys436Tyr) c.953G>A (p.Cys318Tyr) c.*1242G>A (n.*1242G>A) c.1226G>A (p.Cys409Tyr) c.1247G>A (p.Cys416Tyr) c.1454G>A (p.Cys485Tyr) c.1229G>A (p.Cys410Tyr) c.1451G>A (p.Cys484Tyr) c.1321+431G>A (n.1321+431G>A) c.1301G>A (p.Cys434Tyr) c.1094G>A (p.Cys365Tyr) c.881G>A (p.Cys294Tyr) n.1119G>A | ClinVar dbSNP |