| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108209957A>G | CA10576017 | LIG4 | c.1111T>C (p.Tyr371His) c.1312T>C (p.Tyr438His) c.1348T>C (p.Tyr450His) c.1324T>C (p.Tyr442His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108209957A= | CA2117794428 | LIG4 | c.1111T= (p.Tyr371=) c.1312T= (p.Tyr438=) c.1348T= (p.Tyr450=) c.1324T= (p.Tyr442=) | dbSNP |