| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102225011C>G | CA371593392 | RRM2B | c.329G>C (p.Arg110Pro) c.173G>C (p.Arg58Pro) c.49-10853G>C (n.49-10853G>C) c.48+13816G>C (n.48+13816G>C) c.498G>C c.122+7220G>C (n.122+7220G>C) c.*252G>C (n.*252G>C) c.167G>C (p.Arg56Pro) c.545G>C (p.Arg182Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102225011C>T | CA117497 | RRM2B | c.329G>A (p.Arg110His) c.173G>A (p.Arg58His) c.49-10853G>A (n.49-10853G>A) c.48+13816G>A (n.48+13816G>A) c.498G>A c.122+7220G>A (n.122+7220G>A) c.*252G>A (n.*252G>A) c.167G>A (p.Arg56His) c.545G>A (p.Arg182His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |