| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108209863C>T | CA118978 | LIG4 | c.1205G>A (p.Gly402Glu) c.1406G>A (p.Gly469Glu) c.1442G>A (p.Gly481Glu) c.1418G>A (p.Gly473Glu) | ClinVar dbSNP |
| 13 | g.108209863C= | CA2117794385 | LIG4 | c.1205G= (p.Gly402=) c.1406G= (p.Gly469=) c.1442G= (p.Gly481=) c.1418G= (p.Gly473=) | dbSNP |