| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108208829G>A | CA118975 | LIG4 | c.2239C>T (p.Arg747Ter) c.2440C>T (p.Arg814Ter) c.2476C>T (p.Arg826Ter) c.2452C>T (p.Arg818Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208829G>T | CA484975078 | LIG4 | c.2239C>A (p.Arg747=) c.2440C>A (p.Arg814=) c.2476C>A (p.Arg826=) c.2452C>A (p.Arg818=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108208829G>C | CA388613139 | LIG4 | c.2239C>G (p.Arg747Gly) c.2440C>G (p.Arg814Gly) c.2476C>G (p.Arg826Gly) c.2452C>G (p.Arg818Gly) | dbSNP gnomAD v4 |
| 13 | g.108208829G= | CA2117793934 | LIG4 | c.2239C= (p.Arg747=) c.2440C= (p.Arg814=) c.2476C= (p.Arg826=) c.2452C= (p.Arg818=) | dbSNP |