| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75028716G>T | CA129316 | DUSP29,KAT6B | c.3892G>T (p.Gly1298Ter) c.3343G>T (p.Gly1115Ter) c.3016G>T (p.Gly1006Ter) c.2827G>T (p.Gly943Ter) n.577-2122C>A c.*3622-2122C>A (n.*3622-2122C>A) c.3730G>T (p.Gly1244Ter) c.2854G>T (p.Gly952Ter) c.2203G>T (p.Gly735Ter) c.1807G>T (p.Gly603Ter) c.1549G>T (p.Gly517Ter) | ClinVar dbSNP |
| 10 | g.75028716G>A | CA377292519 | DUSP29,KAT6B | c.3892G>A (p.Gly1298Arg) c.3343G>A (p.Gly1115Arg) c.3016G>A (p.Gly1006Arg) c.2827G>A (p.Gly943Arg) n.577-2122C>T c.*3622-2122C>T (n.*3622-2122C>T) c.3730G>A (p.Gly1244Arg) c.2854G>A (p.Gly952Arg) c.2203G>A (p.Gly735Arg) c.1807G>A (p.Gly603Arg) c.1549G>A (p.Gly517Arg) | dbSNP gnomAD v4 |
| 10 | g.75028716G= | CA1920306433 | DUSP29,KAT6B | c.3892G= (p.Gly1298=) c.3343G= (p.Gly1115=) c.3016G= (p.Gly1006=) c.2827G= (p.Gly943=) n.577-2122C= c.*3622-2122C= (n.*3622-2122C=) c.3730G= (p.Gly1244=) c.2854G= (p.Gly952=) c.2203G= (p.Gly735=) c.1807G= (p.Gly603=) c.1549G= (p.Gly517=) | dbSNP |