| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.51408295G>A | CA847783 | EPS15 | c.371C>T (p.Ser124Leu) c.890C>T (p.Ser297Leu) c.1223C>T (p.Ser408Leu) n.559C>T n.816C>T c.*261C>T (n.*261C>T) c.1424C>T (p.Ser475Leu) c.*1276C>T (n.*1276C>T) c.1313C>T (p.Ser438Leu) c.1275+1240C>T (n.1275+1240C>T) n.519C>T c.599C>T (p.Ser200Leu) c.749C>T (p.Ser250Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.51408295G= | CA1140611366 | EPS15 | c.371C= (p.Ser124=) c.890C= (p.Ser297=) c.1223C= (p.Ser408=) n.559C= n.816C= c.*261C= (n.*261C=) c.1424C= (p.Ser475=) c.*1276C= (n.*1276C=) c.1313C= (p.Ser438=) c.1275+1240C= (n.1275+1240C=) n.519C= c.599C= (p.Ser200=) c.749C= (p.Ser250=) | dbSNP |