| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108208685G>A | CA7043468 | LIG4 | c.2383C>T (p.His795Tyr) c.2584C>T (p.His862Tyr) c.2620C>T (p.His874Tyr) c.2596C>T (p.His866Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208685G>C | CA388610715 | LIG4 | c.2383C>G (p.His795Asp) c.2584C>G (p.His862Asp) c.2620C>G (p.His874Asp) c.2596C>G (p.His866Asp) | dbSNP gnomAD v4 |
| 13 | g.108208685G= | CA2117793869 | LIG4 | c.2383C= (p.His795=) c.2584C= (p.His862=) c.2620C= (p.His874=) c.2596C= (p.His866=) | dbSNP |