| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13947991C>T | CA126686 | ERCC4 | c.2533C>T (p.Arg845Trp) c.*2089C>T (n.*2089C>T) c.2395C>T (p.Arg799Trp) n.1672C>T c.708C>T (n.708C>T) c.1852C>T (p.Arg618Trp) c.1606C>T (p.Arg536Trp) c.1045C>T (p.Arg349Trp) n.2554C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.13947991C>G | CA394823414 | ERCC4 | c.2533C>G (p.Arg845Gly) c.*2089C>G (n.*2089C>G) c.2395C>G (p.Arg799Gly) n.1672C>G c.708C>G (n.708C>G) c.1852C>G (p.Arg618Gly) c.1606C>G (p.Arg536Gly) c.1045C>G (p.Arg349Gly) n.2554C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.13947991C= | CA2209082815 | ERCC4 | c.2533C= (p.Arg845=) c.*2089C= (n.*2089C=) c.2395C= (p.Arg799=) n.1672C= c.708C= (n.708C=) c.1852C= (p.Arg618=) c.1606C= (p.Arg536=) c.1045C= (p.Arg349=) n.2554C= | dbSNP |