| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75022145G>T | CA16618989 | KAT6B | c.3286G>T (p.Glu1096Ter) c.2737G>T (p.Glu913Ter) c.2410G>T (p.Glu804Ter) n.3764G>T n.1601G>T c.2221G>T (p.Glu741Ter) n.2331G>T n.5239G>T c.3124G>T (p.Glu1042Ter) c.2248G>T (p.Glu750Ter) c.1597G>T (p.Glu533Ter) c.1201G>T (p.Glu401Ter) c.943G>T (p.Glu315Ter) | ClinVar dbSNP |
| 10 | g.75022145G>A | CA5564782 | KAT6B | c.3286G>A (p.Glu1096Lys) c.2737G>A (p.Glu913Lys) c.2410G>A (p.Glu804Lys) n.3764G>A n.1601G>A c.2221G>A (p.Glu741Lys) n.2331G>A n.5239G>A c.3124G>A (p.Glu1042Lys) c.2248G>A (p.Glu750Lys) c.1597G>A (p.Glu533Lys) c.1201G>A (p.Glu401Lys) c.943G>A (p.Glu315Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75022145G= | CA1920300572 | KAT6B | c.3286G= (p.Glu1096=) c.2737G= (p.Glu913=) c.2410G= (p.Glu804=) n.3764G= n.1601G= c.2221G= (p.Glu741=) n.2331G= n.5239G= c.3124G= (p.Glu1042=) c.2248G= (p.Glu750=) c.1597G= (p.Glu533=) c.1201G= (p.Glu401=) c.943G= (p.Glu315=) | dbSNP |