| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108210436C>A | CA388619863 | LIG4 | c.632G>T (p.Arg211Leu) c.833G>T (p.Arg278Leu) c.869G>T (p.Arg290Leu) c.845G>T (p.Arg282Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210436C>T | CA118981 | LIG4 | c.632G>A (p.Arg211His) c.833G>A (p.Arg278His) c.869G>A (p.Arg290His) c.845G>A (p.Arg282His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.108210436C= | CA2117794642 | LIG4 | c.632G= (p.Arg211=) c.833G= (p.Arg278=) c.869G= (p.Arg290=) c.845G= (p.Arg282=) | dbSNP |
| 13 | g.108210436C>G | CA388619865 | LIG4 | c.632G>C (p.Arg211Pro) c.833G>C (p.Arg278Pro) c.869G>C (p.Arg290Pro) c.845G>C (p.Arg282Pro) | ClinVar dbSNP gnomAD v4 |