| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.4138227A>T | CA472543026 | RRM1 | c.2223A>T (p.Thr741=) c.*2099A>T (n.*2099A>T) c.*1931A>T (n.*1931A>T) c.*1371A>T (n.*1371A>T) c.1557A>T (p.Thr519=) c.1932A>T (p.Thr644=) c.1209A>T (p.Thr403=) | dbSNP gnomAD v4 |
| 11 | g.4138227A>G | CA5831195 | RRM1 | c.2223A>G (p.Thr741=) c.*2099A>G (n.*2099A>G) c.*1931A>G (n.*1931A>G) c.*1371A>G (n.*1371A>G) c.1557A>G (p.Thr519=) c.1932A>G (p.Thr644=) c.1209A>G (p.Thr403=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138227A= | CA1630848565 | RRM1 | c.2223A= (p.Thr741=) c.*2099A= (n.*2099A=) c.*1931A= (n.*1931A=) c.*1371A= (n.*1371A=) c.1557A= (p.Thr519=) c.1932A= (p.Thr644=) c.1209A= (p.Thr403=) | dbSNP |