| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102232235G>A | CA322917 | RRM2B | c.118C>T (p.Arg40Cys) c.49-6201C>T (n.49-6201C>T) n.427C>T c.48+6592C>T (n.48+6592C>T) c.287C>T c.*41C>T (n.*41C>T) c.-45C>T (n.-45C>T) c.334C>T (p.Arg112Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102232235G= | CA1806686225 | RRM2B | c.118C= (p.Arg40=) c.49-6201C= (n.49-6201C=) n.427C= c.48+6592C= (n.48+6592C=) c.287C= c.*41C= (n.*41C=) c.-45C= (n.-45C=) c.334C= (p.Arg112=) | dbSNP |