| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.231421509C>G | CA1453188 | EGLN1 | c.380G>C (p.Cys127Ser) n.433+40963G>C c.30+40929G>C (n.30+40929G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.231421509C>A | CA345237355 | EGLN1 | c.380G>T (p.Cys127Phe) n.433+40963G>T c.30+40929G>T (n.30+40929G>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.231421509C= | CA1140360529 | EGLN1 | c.380G= (p.Cys127=) n.433+40963G= c.30+40929G= (n.30+40929G=) | dbSNP |