| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102214157C>A | CA117492 | RRM2B | c.686G>T (p.Gly229Val) n.73G>T c.530G>T (p.Gly177Val) n.204G>T c.50G>T (p.Gly17Val) c.49-5872G>T (n.49-5872G>T) c.855G>T c.123-1268G>T (n.123-1268G>T) c.524G>T (p.Gly175Val) c.902G>T (p.Gly301Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102214157C= | CA1806677109 | RRM2B | c.686G= (p.Gly229=) n.73G= c.530G= (p.Gly177=) n.204G= c.50G= (p.Gly17=) c.49-5872G= (n.49-5872G=) c.855G= c.123-1268G= (n.123-1268G=) c.524G= (p.Gly175=) c.902G= (p.Gly301=) | dbSNP |