Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49530797G>A | CA277210 | ERCC6 | c.466C>T (p.Gln156Ter) c.*172+1746C>T (n.*172+1746C>T) n.549C>T n.559C>T n.544C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49530797G= | CA1908773789 | ERCC6 | c.466C= (p.Gln156=) c.*172+1746C= (n.*172+1746C=) n.549C= n.559C= n.544C= | dbSNP |