| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.109993271A>T | CA3044086 | EGF | c.2759A>T (p.Glu920Val) c.2390A>T (p.Glu797Val) c.2735-1462A>T (n.2735-1462A>T) c.2633A>T (p.Glu878Val) n.444A>T c.2516A>T (p.Glu839Val) c.2491+9730A>T (n.2491+9730A>T) c.2648A>T (p.Glu883Val) c.2734+4562A>T (n.2734+4562A>T) n.3187+4562A>T c.2783A>T (p.Glu928Val) c.2759-1462A>T (n.2759-1462A>T) c.2657A>T (p.Glu886Val) c.2540A>T (p.Glu847Val) c.2758+4562A>T (n.2758+4562A>T) n.3211+4562A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.109993271A>G | CA357887032 | EGF | c.2759A>G (p.Glu920Gly) c.2390A>G (p.Glu797Gly) c.2735-1462A>G (n.2735-1462A>G) c.2633A>G (p.Glu878Gly) n.444A>G c.2516A>G (p.Glu839Gly) c.2491+9730A>G (n.2491+9730A>G) c.2648A>G (p.Glu883Gly) c.2734+4562A>G (n.2734+4562A>G) n.3187+4562A>G c.2783A>G (p.Glu928Gly) c.2759-1462A>G (n.2759-1462A>G) c.2657A>G (p.Glu886Gly) c.2540A>G (p.Glu847Gly) c.2758+4562A>G (n.2758+4562A>G) n.3211+4562A>G | dbSNP |