| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137743418C>T | CA340104 | EHMT1 | c.871C>T (p.Arg291Ter) c.757C>T (p.Arg253Ter) c.778C>T (p.Arg260Ter) c.911C>T (n.911C>T) c.-6C>T (n.-6C>T) c.816C>T c.576C>T c.40C>T (p.Arg14Ter) c.*606C>T (n.*606C>T) n.162C>T n.221C>T c.774C>T c.42C>T c.862C>T (p.Arg288Ter) c.853C>T (p.Arg285Ter) c.880C>T (p.Arg294Ter) c.877C>T (p.Arg293Ter) c.859C>T (p.Arg287Ter) c.850C>T (p.Arg284Ter) c.856C>T (p.Arg286Ter) | ClinVar dbSNP |
| 9 | g.137743418C>A | CA467865970 | EHMT1 | c.871C>A (p.Arg291=) c.757C>A (p.Arg253=) c.778C>A (p.Arg260=) c.911C>A (n.911C>A) c.-6C>A (n.-6C>A) c.816C>A c.576C>A c.40C>A (p.Arg14=) c.*606C>A (n.*606C>A) n.162C>A n.221C>A c.774C>A c.42C>A c.862C>A (p.Arg288=) c.853C>A (p.Arg285=) c.880C>A (p.Arg294=) c.877C>A (p.Arg293=) c.859C>A (p.Arg287=) c.850C>A (p.Arg284=) c.856C>A (p.Arg286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |