Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.4138236G>A | CA5831196 | RRM1 | c.2232G>A (p.Ala744=) c.*2108G>A (n.*2108G>A) c.*1940G>A (n.*1940G>A) c.*1380G>A (n.*1380G>A) c.1566G>A (p.Ala522=) c.1941G>A (p.Ala647=) c.1218G>A (p.Ala406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.4138236G>T | CA5831197 | RRM1 | c.2232G>T (p.Ala744=) c.*2108G>T (n.*2108G>T) c.*1940G>T (n.*1940G>T) c.*1380G>T (n.*1380G>T) c.1566G>T (p.Ala522=) c.1941G>T (p.Ala647=) c.1218G>T (p.Ala406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |