| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108209366del | CA7043591 | LIG4 | c.1703del (p.Lys568ArgfsTer10) c.1904del (p.Lys635ArgfsTer10) c.1940del (p.Lys647ArgfsTer10) c.1916del (p.Lys639ArgfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108209366dup | CA2117794158 | LIG4 | c.1703dup (p.Lys569GlufsTer7) c.1904dup (p.Lys636GlufsTer7) c.1940dup (p.Lys648GlufsTer7) c.1916dup (p.Lys640GlufsTer7) | dbSNP |