| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55871091G>A | CA119276 | EFEMP1 | c.1033C>T (p.Arg345Trp) c.392C>T c.*685C>T (n.*685C>T) c.1183C>T (p.Arg395Trp) n.229-2792G>A c.793C>T (p.Arg265Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.55871091G= | CA1252504900 | EFEMP1 | c.1033C= (p.Arg345=) c.392C= c.*685C= (n.*685C=) c.1183C= (p.Arg395=) n.229-2792G= c.793C= (p.Arg265=) | dbSNP |