| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5622943T>C | CA2834806 | EVC2 | c.2095A>G (p.Thr699Ala) c.1855A>G (p.Thr619Ala) c.*488A>G (n.*488A>G) c.2104A>G (p.Thr702Ala) c.1864A>G (p.Thr622Ala) c.415A>G (p.Thr139Ala) n.2160A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5622943T= | CA1435419102 | EVC2 | c.2095A= (p.Thr699=) c.1855A= (p.Thr619=) c.*488A= (n.*488A=) c.2104A= (p.Thr702=) c.1864A= (p.Thr622=) c.415A= (p.Thr139=) n.2160A= | dbSNP |