| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108210706C>T | CA7043827 | LIG4 | c.362G>A (p.Arg121Gln) c.563G>A (p.Arg188Gln) c.599G>A (p.Arg200Gln) c.575G>A (p.Arg192Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210706C= | CA2117794739 | LIG4 | c.362G= (p.Arg121=) c.563G= (p.Arg188=) c.599G= (p.Arg200=) c.575G= (p.Arg192=) | dbSNP |