| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482689G>T | CA376724125 | ERCC6 | c.2167C>A (p.Gln723Lys) n.2245C>A c.2008C>A (p.Gln670Lys) c.*559C>A (n.*559C>A) c.277C>A (p.Gln93Lys) | dbSNP gnomAD v4 |
| 10 | g.49482689G>A | CA274701 | ERCC6 | c.2167C>T (p.Gln723Ter) n.2245C>T c.2008C>T (p.Gln670Ter) c.*559C>T (n.*559C>T) c.277C>T (p.Gln93Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |