| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.113100268dup | CA1189627625 | LRIG2 | c.1230dup (p.Ser411IlefsTer3) n.121dup n.58dup c.921dup (p.Ser308IlefsTer3) c.147dup (p.Ser50IlefsTer3) c.-434dup (n.-434dup) | dbSNP |
| 1 | g.113100268del | CA214409 | LRIG2 | c.1230del (p.Glu410AspfsTer6) n.121del n.58del c.921del (p.Glu307AspfsTer6) c.147del (p.Glu49AspfsTer6) c.-434del (n.-434del) | ClinVar dbSNP |