| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13948220A>G | CA152759 | ERCC4 | c.2762A>G (p.Glu921Gly) c.*2318A>G (n.*2318A>G) c.2624A>G (p.Glu875Gly) n.1901A>G c.2081A>G (p.Glu694Gly) c.1835A>G (p.Glu612Gly) c.1274A>G (p.Glu425Gly) n.2783A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948220A= | CA2209082925 | ERCC4 | c.2762A= (p.Glu921=) c.*2318A= (n.*2318A=) c.2624A= (p.Glu875=) n.1901A= c.2081A= (p.Glu694=) c.1835A= (p.Glu612=) c.1274A= (p.Glu425=) n.2783A= | dbSNP |
| 16 | g.13948220A>T | CA394824645 | ERCC4 | c.2762A>T (p.Glu921Val) c.*2318A>T (n.*2318A>T) c.2624A>T (p.Glu875Val) n.1901A>T c.2081A>T (p.Glu694Val) c.1835A>T (p.Glu612Val) c.1274A>T (p.Glu425Val) n.2783A>T | dbSNP gnomAD v4 |