| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74043901C>G | CA281040 | ELN | c.450C>G (p.Tyr150Ter) c.414C>G (p.Tyr138Ter) c.465C>G (p.Tyr155Ter) c.233-2287C>G (n.233-2287C>G) c.420C>G (p.Tyr140Ter) c.435C>G (p.Tyr145Ter) c.432C>G (n.432C>G) c.325+1195C>G (n.325+1195C>G) c.384C>G (p.Tyr128Ter) c.197-2795C>G (n.197-2795C>G) c.427+733C>G (n.427+733C>G) n.429C>G c.429C>G (p.Tyr143Ter) c.399C>G (p.Tyr133Ter) | ClinVar dbSNP |
| 7 | g.74043901C>A | CA10588434 | ELN | c.450C>A (p.Tyr150Ter) c.414C>A (p.Tyr138Ter) c.465C>A (p.Tyr155Ter) c.233-2287C>A (n.233-2287C>A) c.420C>A (p.Tyr140Ter) c.435C>A (p.Tyr145Ter) c.432C>A (n.432C>A) c.325+1195C>A (n.325+1195C>A) c.384C>A (p.Tyr128Ter) c.197-2795C>A (n.197-2795C>A) c.427+733C>A (n.427+733C>A) n.429C>A c.429C>A (p.Tyr143Ter) c.399C>A (p.Tyr133Ter) | ClinVar dbSNP |