| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137716842C>T | CA375764283 | EHMT1 | c.302C>T (p.Ser101Leu) c.209C>T (p.Ser70Leu) c.278C>T (p.Ser93Leu) c.247C>T c.*37C>T (n.*37C>T) c.413C>T (p.Ser138Leu) c.226C>T c.293C>T (p.Ser98Leu) c.284C>T (p.Ser95Leu) c.311C>T (p.Ser104Leu) c.308C>T (p.Ser103Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137716842C>G | CA375764281 | EHMT1 | c.302C>G (p.Ser101Ter) c.209C>G (p.Ser70Ter) c.278C>G (p.Ser93Ter) c.247C>G c.*37C>G (n.*37C>G) c.413C>G (p.Ser138Ter) c.226C>G c.293C>G (p.Ser98Ter) c.284C>G (p.Ser95Ter) c.311C>G (p.Ser104Ter) c.308C>G (p.Ser103Ter) | ClinVar dbSNP gnomAD v4 |