Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209565A>G | CA153528 | LIG4 | c.1503T>C (p.Asp501=) c.1704T>C (p.Asp568=) c.1740T>C (p.Asp580=) c.1716T>C (p.Asp572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209565A= | CA2018047018 | LIG4 | c.1503T= (p.Asp501=) c.1704T= (p.Asp568=) c.1740T= (p.Asp580=) c.1716T= (p.Asp572=) | dbSNP |