| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.231374041G>C | CA116774 | EGLN1 | c.950C>G (p.Pro317Arg) n.227C>G n.492C>G c.89C>G (p.Pro30Arg) c.172C>G c.324C>G n.50C>G c.254C>G (p.Pro85Arg) c.230-7566C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.231374041G= | CA1141188315 | EGLN1 | c.950C= (p.Pro317=) n.227C= n.492C= c.89C= (p.Pro30=) c.172C= c.324C= n.50C= c.254C= (p.Pro85=) c.230-7566C= | dbSNP |