| 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 |
| 10 | g.75028626G= | CA1920306407 | DUSP29,KAT6B | c.3802G= (p.Gly1268=) c.3253G= (p.Gly1085=) c.2926G= (p.Gly976=) c.2737G= (p.Gly913=) n.577-2032C= c.*3622-2032C= (n.*3622-2032C=) c.3640G= (p.Gly1214=) c.2764G= (p.Gly922=) c.2113G= (p.Gly705=) c.1717G= (p.Gly573=) c.1459G= (p.Gly487=) | dbSNP |