| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75028626G>T | CA129318 | DUSP29,KAT6B | c.3802G>T (p.Gly1268Ter) c.3253G>T (p.Gly1085Ter) c.2926G>T (p.Gly976Ter) c.2737G>T (p.Gly913Ter) n.577-2032C>A c.*3622-2032C>A (n.*3622-2032C>A) c.3640G>T (p.Gly1214Ter) c.2764G>T (p.Gly922Ter) c.2113G>T (p.Gly705Ter) c.1717G>T (p.Gly573Ter) c.1459G>T (p.Gly487Ter) | ClinVar dbSNP |
| 10 | g.75028626G>A | CA5564909 | DUSP29,KAT6B | c.3802G>A (p.Gly1268Arg) c.3253G>A (p.Gly1085Arg) c.2926G>A (p.Gly976Arg) c.2737G>A (p.Gly913Arg) n.577-2032C>T c.*3622-2032C>T (n.*3622-2032C>T) c.3640G>A (p.Gly1214Arg) c.2764G>A (p.Gly922Arg) c.2113G>A (p.Gly705Arg) c.1717G>A (p.Gly573Arg) c.1459G>A (p.Gly487Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |