| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.109980955A>T | CA3043939 | EGF | c.2351A>T (p.Asp784Val) c.2225A>T (p.Asp742Val) n.279A>T n.315A>T c.2240A>T (p.Asp747Val) n.2804A>T c.2375A>T (p.Asp792Val) c.2249A>T (p.Asp750Val) n.2828A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.109980955A= | CA1484811161 | EGF | c.2351A= (p.Asp784=) c.2225A= (p.Asp742=) n.279A= n.315A= c.2240A= (p.Asp747=) n.2804A= c.2375A= (p.Asp792=) c.2249A= (p.Asp750=) n.2828A= | dbSNP |