| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.231421877G>C | CA1453218 | EGLN1 | c.12C>G (p.Asp4Glu) n.433+40595C>G c.30+40561C>G (n.30+40561C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.231421877G>A | CA424040846 | EGLN1 | c.12C>T (p.Asp4=) n.433+40595C>T c.30+40561C>T (n.30+40561C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.231421877G= | CA1142888950 | EGLN1 | c.12C= (p.Asp4=) n.433+40595C= c.30+40561C= (n.30+40561C=) | dbSNP |