| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2135446G>A | CA472021225 | IGF2,INS-IGF2 | c.78C>T (p.Tyr26=) c.*130C>T (n.*130C>T) c.246C>T (p.Tyr82=) n.792C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2135446G>C | CA16616844 | IGF2,INS-IGF2 | c.78C>G (p.Tyr26Ter) c.*130C>G (n.*130C>G) c.246C>G (p.Tyr82Ter) n.792C>G | ClinVar dbSNP |