| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102224076G>A | CA324390 | RRM2B | c.520C>T (p.Arg174Ter) c.364C>T (p.Arg122Ter) c.49-9918C>T (n.49-9918C>T) c.48+14751C>T (n.48+14751C>T) c.689C>T c.122+8155C>T (n.122+8155C>T) c.358C>T (p.Arg120Ter) c.736C>T (p.Arg246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.102224076G>T | CA462127441 | RRM2B | c.520C>A (p.Arg174=) c.364C>A (p.Arg122=) c.49-9918C>A (n.49-9918C>A) c.48+14751C>A (n.48+14751C>A) c.689C>A c.122+8155C>A (n.122+8155C>A) c.358C>A (p.Arg120=) c.736C>A (p.Arg246=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102224076G>C | CA371591605 | RRM2B | c.520C>G (p.Arg174Gly) c.364C>G (p.Arg122Gly) c.49-9918C>G (n.49-9918C>G) c.48+14751C>G (n.48+14751C>G) c.689C>G c.122+8155C>G (n.122+8155C>G) c.358C>G (p.Arg120Gly) c.736C>G (p.Arg246Gly) | dbSNP gnomAD v2 gnomAD v4 |