| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5689175T>A | CA356148253 | EVC2 | c.688A>T (p.Ser230Cys) c.448A>T (p.Ser150Cys) c.-985A>T (n.-985A>T) c.-1089A>T (n.-1089A>T) n.753A>T | dbSNP |
| 4 | g.5689175T>C | CA2835370 | EVC2 | c.688A>G (p.Ser230Gly) c.448A>G (p.Ser150Gly) c.-985A>G (n.-985A>G) c.-1089A>G (n.-1089A>G) n.753A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5689175T= | CA1435456914 | EVC2 | c.688A= (p.Ser230=) c.448A= (p.Ser150=) c.-985A= (n.-985A=) c.-1089A= (n.-1089A=) n.753A= | dbSNP |