| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108209531G>C | CA7043627 | LIG4 | c.1537C>G (p.Arg513Gly) c.1738C>G (p.Arg580Gly) c.1774C>G (p.Arg592Gly) c.1750C>G (p.Arg584Gly) | dbSNP ExAC gnomAD v4 COSMIC |
| 13 | g.108209531G>A | CA118972 | LIG4 | c.1537C>T (p.Arg513Ter) c.1738C>T (p.Arg580Ter) c.1774C>T (p.Arg592Ter) c.1750C>T (p.Arg584Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108209531G= | CA2117794238 | LIG4 | c.1537C= (p.Arg513=) c.1738C= (p.Arg580=) c.1774C= (p.Arg592=) c.1750C= (p.Arg584=) | dbSNP |