| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13947661C>A | CA143933 | ERCC4 | c.2203C>A (p.Arg735Ser) c.*1759C>A (n.*1759C>A) c.2065C>A (p.Arg689Ser) n.1342C>A c.378C>A (n.378C>A) c.1522C>A (p.Arg508Ser) c.1276C>A (p.Arg426Ser) c.715C>A (p.Arg239Ser) n.2224C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.13947661C>T | CA7910666 | ERCC4 | c.2203C>T (p.Arg735Cys) c.*1759C>T (n.*1759C>T) c.2065C>T (p.Arg689Cys) n.1342C>T c.378C>T (n.378C>T) c.1522C>T (p.Arg508Cys) c.1276C>T (p.Arg426Cys) c.715C>T (p.Arg239Cys) n.2224C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.13947661C>G | CA394821310 | ERCC4 | c.2203C>G (p.Arg735Gly) c.*1759C>G (n.*1759C>G) c.2065C>G (p.Arg689Gly) n.1342C>G c.378C>G (n.378C>G) c.1522C>G (p.Arg508Gly) c.1276C>G (p.Arg426Gly) c.715C>G (p.Arg239Gly) n.2224C>G | dbSNP gnomAD v4 |